Chromosomal and related mendelian syndromes associated with hirschsprung's disease

Pediatric Surgery International

Volumn 28, Issue 11, 2012, Pages 1045-1058

  Moore, S W ^a  

^a STELLENBOSCH UNIVERSITY   (South Africa)

Author keywords

Associated anomalies; Children; Genetics; Hirschsprung's disease

Indexed keywords

CHOLESTEROL; FAT; PROTEIN; PROTEIN MEN2; PROTEIN RET; UNCLASSIFIED DRUG;

AGANGLIONOSIS; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BARDET BIEDL SYNDROME; CARTILAGE HAIR HYPOPLASIA; CHOLESTEROL METABOLISM; CHROMOSOME 10; CHROMOSOME 11; CHROMOSOME 13; CHROMOSOME 3; CHROMOSOME 9; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; DISEASE ASSOCIATION; DISEASE SEVERITY; DOWN SYNDROME; GENE INTERACTION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SUSCEPTIBILITY; GOLDBERG SHPRINTZEN SYNDROME; HADDAD SYNDROME; HIRSCHSPRUNG DISEASE; HUMAN; LIPID METABOLISM; MENDELIAN SYNDROME; MOWAT WILSON SYNDROME; NEUROBLASTOMA; ORGANIC BRAIN SYNDROME; PATHOGENESIS; PENETRANCE; PERCEPTION DEAFNESS; PHENOTYPE; PHEOCHROMOCYTOMA; PHYLOGENY; PRIORITY JOURNAL; RECESSIVE INHERITANCE; REVIEW; SHAH WAARDENBURG SYNDROME; SMITH LEMLI OPITZ SYNDROME; THYROID MEDULLARY CARCINOMA; TRISOMY 21; WAARDENBURG SYNDROME;

CHILD; CHROMOSOME DISORDERS; DOWN SYNDROME; HIRSCHSPRUNG DISEASE; HUMANS; INHERITANCE PATTERNS; SYNDROME;

EID: 84871456004     PISSN: 01790358     EISSN: 14379813     Source Type: Journal    
DOI: 10.1007/s00383-012-3175-6     Document Type: Review

References (188)

1. Badner JA, Sieber WK, Garver KL, Chakravarti A (1990) A genetic study of Hirschsprung disease. Am J Hum Genet 46:568-580
2. Amiel J, Lyonnet S (2001) Hirschsprung disease, associated syndromes, and genetics: A review. J Med Genet 38:729-739
3. Gordon H, Louw JH, Torrington M, Cywes S (1966) A genetical study of Hirschsprungs disease. S Afr Med J 40:720-721
4. Kleinhaus S, Boley SJ, Sheran M, Sieber WK (1979) Hirschsprungs disease: A survey of the Surgical section of the American Academy of Pediatrics. J Pediatr Surg 14:588-597
5. Moore SW, Rode H, Millar AJ, Albertyn R, Cywes S (1991) Familial Aspects of Hirschsprungs disease. Eur J Pediatr Surg 1:97-107
6. Nemeth L, Yoneda A, Kader M, Devaney D, Puri P (2001) Three-dimensional morphology of gut innervation in total intestinal aganglionosis using whole-mount preparation. J Pediatr Surg 36:291-295
7. Caniano DA, Ormsbee HS III, Polito W, Sun CC, Barone FC, Hill JL (1985) Total intestinal aganglionosis. J Pediatr Surg 20:456-460
8. Jannot AS, Amiel J, Pelet A, Lantieri F, Fernandez RM, Verheij JB et al (2012) Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease. Eur J Hum Genet 20:917-920
9. Moore SW, Zaahl MG (2008) A review of genetic mutation in familial Hirschsprung's disease in South Africa: Towards genetic counseling. J Pediatr Surg 43:325-329
10. Hannon RJ, Boston V (1988) Discordant Hirschsprings disease in monozygomatic twins. J Pediatr Surg 23:1034-1035
11. Moore TC, Landers DB, Lachman RS et al (1979) Hirschsprungs disease discordant in monozygomatic twins a study of possible environmental factors in the production of congenital aganglionosis. J Pediatr Surg 14:151-161
12. Siplovich L, Carmi R, Bar-Ziv J et al (1983) Hirschsprungs disease in monozygotic twins. J Pediatr Surg 18:639-640
13. Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S et al (2005)A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 434:857-863
14. de Pontual L, Pelet A, Trochet D, Jaubert F, Espinosa-Parrilla Y, Munnich A et al (2006) Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. J Med Genet 43:419-423
15. Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G et al (2010) Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet 87:60-74
16. Passarge E (1967) The genetics of Hirschsprungs Disease. N Engl J Med 276:138-143
17. Cohen I, Gadd MA (1982) Hirschsprungs disease in a kindred: A possible clue to the genetics of the disease. J Pediatr Surg 17:632-634
18. Griseri P, Lantieri F, Puppo F, Bachetti T, Di Duca M, Ravazzolo R, Ceccherini I (2007) A common variant located in the 30UTR of the RET gene is associated with protection from Hirschsprung disease. Hum Mutat 28:168-176
19. Luo Y, Ceccherini I, Pasini B et al (1993) Close linkage with the RET proto-oncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. Hum Mol Genet 2:1803-1808
20. Luo Y, Barone V, Seri M, Bolino A, Bocciardi R, Ceccherini I et al (1994) Heterogeneity of mutations of the RET protooncogene in autosomal dominant HSCR. Eur J Hum Genet 2:272-280
21. Santos H, Mateus J, Leal MJ (1988) Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: A new autosomal recessive syndrome. J Med Genet 25:204-205
22. le Merrer M, Briard ML, Chauvet ML, Maroteaux P (1991) Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease. Ann Pediatr (Paris) 38:27-30
23. Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M (1995) Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Am J Med Genet 56:322-326
24. Passarge E (2002) Dissecting Hirschsprung disease. Nat Genet 1:11-12
25. Weinberg AG, Currarino G, Besserman M (1977) Hirschsprungs disease and congenital deafness. Hum Genet 38:157-161
26. Schocket E, Telok HA (1957) Aganglionic megacolon, phaeochromocytoma, megaloureter and neurofibromatosis. Am J Dis Child 94:185-191
27. Bolande RP (1974) The Neurocristopathies, a unifying concept of disease arising in neural crest maldevelopment. Hum Pathol 5:409-429
28. Shah KN, Dalal SJ, Desai MP (1981) White forelock, pigmentary disorder of irides and long segment Hirschsprung's disease: Possible variant of Waardenburg syndrome. J Pediatr 99:432-435
29. Khan AH, Desjardin JG, Gregoire H, Seidman E (1987) Gastrointestinal manifestations of the Sipple syndrome in children. J Pediatr Surg 22:719-723
30. Spouge D, Baird PA (1985) Hirschsprungs disease in a large birth cohort. Teratology 32:171-177
31. Martucciello G, Bicocci MP, Dodero P, Lerone M, Silengo-Cirillo M, Puliti A, Gimelli G (1992) Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. Pediatr Surg Int 7:308-310
32. Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fekete C, Briard M et al (1993) A gene for HSCR maps to the proximal long arm of chromosome 10. Nat Genet 4:346-350
33. Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79:1256-1266
34. McCallion AS, Chakravarti A (2001) EDNRB/EDN3 and Hirschsprung disease type II. Pigment Cell Res 14:161-169
35. Antonellis A, Bennett WR, Menheniott TR, Prasad AB, Lee-Lin SQ, Green ED et al (2005) Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) Syndrome. Hum Mol Genet 15(2):259-271
36. Kelsh RN (2006) Sorting out Sox10 functions in neural crest development. BioEssays 28:788-798
37. Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D et al (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 33:459-461
38. Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kaariainen H, Cass D et al (2003) Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. Am J Med Genet A 119A:257-265
39. Mowat DR, Wilson MJ, Goossen M (2003) Mowat-Wilson syndrome. J Med Genet 40:305-310
40. Cacheux V, Dastot-Le Moal F, Kaariainen H, Bondurand N et al (2001) Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Hum Mol Genet 10:1503-1510
41. Moore SW, Johnson GA (1998) Hirschsprungs disease: Genetic and functional associations of Downs and Waardenburghs syndromes. Semin Pediatr Surg (USA) 7:156-161
42. Maeda T, Okazaki K, Tachibana M, Sakamoto Y, Sakaeda H, Yamamoto Y et al (1984) A case of Hirschsprung's disease associated with Laurence-Moon-Bardet- Biedl syndrome. Nihon Shokakibyo Gakkai Zasshi 81:912-916
43. Cass D (1990) Aganglionosis: Associated anomalies. J Paediatr Child Health 26:351-354
44. Cass D, Myers N (1987) Total colonic aganglionosis: 30 years experience. Pediatr Surg Int 2:68-75
45. Hoehner JC, Ein SH, Shandling B, Kim PC (1998) Long-term morbidity in total colonic aganglionosis. J Pediatr Surg 33:961-965
46. Moore SW, Zaahl M (2009) Clinical and genetic differences in Total colonic aganglionosis (TCA) in Hirschsprungs disease. J Paediatr Surg 44(10):1899-1903
47. Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A et al (2008) Hirschsprung disease, associated syndromes and genetics: A review. J Med Genet 45:1-14
48. Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D et al (2000) A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci USA 97:268-273
49. Ceccherini I, Hofstra R, Luo Y et al (1994) DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene 9:3025-3029
50. Mulligan LM, Eng C, Attie T, Lyonnet S, Marsh DJ, Hyland VJ R et al (1994) Diverse phenotypes associated with exon 10mutations of the RET proto-oncogene. Hum Mol Genet 3:2163-2167
51. Carrasquillo MM, McCallion AS, Puffenberger EG, Kaschuk CS, No N, Chakravarti A (2002) Genome-wide association study as well as the study of mouse models help to identify the interaction between RET and EDNRB pathways in Hirschsprung disease. Nature Genet 32:237-244
52. Carter TC, Kay DM, Browne ML, Liu A, Romitti PA, Kuehn D et al (2012) Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation. J Hum Genet (e-published prior to print
53. Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, Lopez-Alonso M et al (2000) RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet 37:572-578
54. Young HM, Hearn CJ, Farlie PG, Canty AJ, Thomas PQ, Newgreen DF (2001) GDNF is a chemoattractant for enteric neural cells. Dev Biol 229:503-516
55. Enomoto H (2005) Regulation of neural development by glial cell line-derived neurotrophic factor family ligands. Anat Sci Int 80:42-52
56. Lantieri F, Griseri P, Ceccherini I (2006) Molecular mechanisms of RET-induced Hirschsprung pathogenesis. Ann Med 38:11-19
57. Jiang Q, Ho YY, Hao L, Nichols Berrios C, Chakravarti A (2011) Copy number variants in candidate genes are genetic modifiers of hirschsprung disease. PLoS One 6:e21219
58. Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M et al (2001) Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Am J Hum Genet 69:1370-1377
59. Grice EA, Rochelle ES, Green ED, Chakravarti A, McCallion AS (2005) Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. Hum Mol Genet 14:3837-3845
60. Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P et al (2009) Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association. Hum Mutat 30:771-775
61. de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T et al (2007) Epistatic interactions with a common hypomorphic Ret allele in syndromic Hirschsprung disease. Hum Mutat 28:790-796
62. Moore SW (2006) The contribution of associated congenital anomalies in understanding Hirschsprungs disease. Pediatr Surg Int 22:305-315
63. Beedgen B, Nutzenadel W, Querfeld U, Weiss-Wichert P (1986) ''Partial trisomy 21 and 11'' due to a paternal 11;22 translocation associated with Hirschsprungs disease. Eur J Pediatr 145:229-232
64. Graivier L, Sieber WK (1966) Hirschsprungs disease and mongolism. Surgery 60:458-461
65. Garver K, Law J, Garver B (1985) Hirschsprung disease: A genetic study. Clin Genet 28:503-508
66. Ikeda K, Goto S (1986) Additional anomalies in Hirschsprungs disease: An analysis based on a nationwide survey in Japan. Z Kinderchir 41:279-281
67. Goldberg E (1984) A epidemiological study of Hirschsprungs disease. Int J Epidemiol 13:479-485
68. Caniano DA, Teitelbaum DH, Qualman SJ (1990) Management of Hirschsprung's disease in children with trisomy 21. Am J Surg 159:402-404
69. Quinn FM, Surana R, Puri P (1994) The influence of trisomy 21 on outcome in children with Hirschsprung's disease. J Pediatr Surg 29:781-783
70. Puffenberger E, Kauffman E, Bolk S et al (1994) Identity-bydescent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet 3:1217-1225
71. Moore SW (2008) Down syndrome and the enteric nervous system. Pediatr Surg Int 24:873-883
72. Mrak RE, Griffin WS (2004) Trisomy 21 and the brain. J Neuropathol Exp Neurol 63:679-685
73. Marin-Padilla M (1976) Pyramidal cell abnormalities in the motor cortex of a child with Down's syndrome. A Golgi study. J Comp Neurol 167:63-81
74. Takashima S, Becker LE, Armstrong DL, Chan F (1981) Abnormal neuronal development in the visual cortex of the human fetus and infant with down's syndrome. A quantitative and qualitative Golgi study. Brain Res 225:1-21
75. Becker LE, Armstrong DL, Chan F (1986) Dendritic atrophy in children with Down's syndrome. Ann Neurol 20:520-526
76. Schmidt-Sidor B, Wisniewski KE, Shepard TH, Sersen EA (1990) Brain growth in Down syndrome subjects 15 to 22 weeks of gestational age and birth to 60 months. Clin Neuropathol 9:181-190
77. Moore SW, Zaahl MG (2012) Intronic RET gene variants in Down syndrome associated Hirschsprungs disease (DS-HD) in an African population. J Pediatr Surg 47:299-302
78. Rothman TP, Goldowitz D, Gershon MD (1993) Inhibition of migration of neural crest-derived cells by the abnormal mesenchyme of the presumptive aganglionic bowel of ls/ls mice: Analysis with aggregation and interspecies chimeras. Dev Biol 159:559-573
79. Behar TN, Colton CA (2003) Redox regulation of neuronal migration in a Down Syndrome model. Free Radic Biol Med 35:566-575
80. Suetsugu M, Mehraein P (1980) Spine distribution along the apical dendrites of the pyramidal neurons in Down's syndrome. A quantitative Golgi study. Acta Neuropathol 50:207-210
81. Nakazato Y, Landing BH (1986) Reduced number of neurons in esophageal plexus ganglia in Down syndrome: Additional evidence for reduced cell number as a basic feature of the disorder. Pediatr Pathol 5:55-63
82. Leffler A, Wedel T, Busch LC (1999) Congenital colonic hypoganglionosis in murine trisomy 16-an animal model for Down's syndrome. Eur J Pediatr Surg 9:381-388
83. Li J, Busch LC, Kuhnel W (2000) PGP 9.5 immunohistochemical study on the development of the enteric nervous system of trisomy 16 mouse embryos and their normal littermates. Zhongguo Yi Xue Ke Xue Yuan Xue Bao 22:159-164
84. Zaahl MG, du Plessis L, Warnich L, Kotze MJ, Moore SW (2003) Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: Predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. Mol Cell Probes 17:49-54
85. Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB (2004) Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. Am J Med Genet A 124:274-279
86. Prabhakara K, Wyandt HE, Huang XL, Prasad KS, Ramadevi AR (2004) Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18. Ann Genet 47:297-303
87. Hayward MD, Cameron AH (1962) Triple mosaicism of the sex chromosomes in Turner syndrome and Hirschsprungs disease. Lancet 2:623
88. Foy C, Newton V, Wellesley D, Harris R, Read AP (1990) Assignment of the locus for Waardenburgh syndrome Type 1 to human chromosome 2q37 and possible homology to the splotch mouse. Am J Hum Genet 46:1017-1023
89. Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H et al (2001) Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nature Genet 27:369-370
90. Lurie IW, Supovitz KR, Rosenblum-Vos LS, Wulfsberg EA (1994) Phenotypic variability of del(2) (q22-q23): Report of a case with a review of the literature. Genet Couns 5:11-14
91. Mowat DR, Croaker GD, Cass DT, Kerr BA, Chaitow J, Ades LC et al (1998) Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet 35:617-623
92. Bolk-Gabriel S, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M et al (2002) Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 1:89-93
93. Melaragno MI, Brunoni D, Patricio FR, Corbani M, Mustacchi Z, de Dos Santos RC et al (1992) A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. Ann Genet 35:79-84
94. Azizi E, Berlowitz I, Vinograd I, Reif R, Mundel G (1984) Congenital megacolon associated with familial dysautonomia. Eur J Pediatr 142:68-69
95. Slaugenhaupt SA (2002) Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene. Clin Auton Res 12:I15-I119
96. Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A (2002) RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet 61:146-151
97. Yoder BJ, Prayson RA (2002) Shah-Waardenburg syndrome and Dandy-Walker malformation: An autopsy report. Clin Neuropathol 21:236-240
98. Ramalho-Santos M, Melton DA, McMahon AP (2000) Hedgehog signals regulate multiple aspects of gastrointestinal development. Development 127:2763-2772
99. Hall T, Samuel M, Brain J (2009) Mosaic trisomy 22 associated with total colonic aganglionosis and malrotation. J Pediatr Surg 44:e9-e11
100. Mahboubi S, Templeton JM Jr (1984) Association of Hirschsprung's disease and imperforate anus in a patient with ''cat-eye'' syndrome. A report of one case and review of the literature. Pediatr Radiol 14:441-442
101. Kerstjens-Frederikse WS, Hofstra RM, van Essen AJ, Meijers JH, Buys CH (1999) A Hirschsprung disease locus at 22q11? J Med Genet 36:221-224
102. Okamoto N, Wada Y, Goto M (1997) Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. J Med Genet 34:670-671
103. Hofstra RM, Elfferich P, Osinga J, Verlind E, Fransen E, Lopez Pison J et al (2002) Hirschsprung disease and L1CAM: Is the disturbed sex ratio caused by L1CAM mutations? J Med Genet 39:E11
104. Wallace AS, Tan MX, Schachner M, Anderson RB (2011) L1cam acts as a modifier gene for members of the endothelin signalling pathway during enteric nervous system development. Neurogastroenterol Motil 23:e510-e522
105. Sznajer Y, Coldea C, Meire F, Delpierre I, Sekhara T, Touraine RL (2008) A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease. Am J Med Genet A 146A:1038-1041
106. Nissen KB, Sondergaard C, Thelle T, Moller RS (2011) Mowat-Wilson syndrome: A report of three Danish cases. Ugeskr Laeger 173:2199-2200
107. Sipple JH (1961) The association of phaeochromocytomas with carcinomas of the thyroid gland. Am J Med 31:163-166
108. Karaca I, Turk E, Ortac R, Kandirici A (2009) Waardenburg syndrome with extended aganglionosis: Report of 3 new cases. J Pediatr Surg 44:E9-E13
109. Thiel CT, Rauch A (2011) The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. Best Pract Res Clin Endocrinol Metab 25:131-142
110. Goldberg RB, Shprintzen RJ (1981) Hirschsprung megacolon and cleft palate in two sibs. J Craniofac Genet Dev Biol 1:185-189
111. Sparkes RS, Sparkes MC, Kalina RE, Pagon RA, Salk DJ, Disteche CM (1984) Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3). Hum Genet 68:258-259
112. Lamont MA, Fitchett M, Dennis NR (1989) Interstitial deletion of distal 13q associated with Hirschsprung's disease. J Med Genet 26:100-104
113. Bottani A, Xie YG, Binkert F, Schnizel A (1991) A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2), potential mapping of one disease locus. Hum Genet 87:748-750
114. Auricchio A, Griseri P, Carpentieri ML, Betsos N, Staiano A, Tozzi A et al (1999) Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet 64(4): 1216-1221
115. Chakravarti A (1996) Endothelin receptor-mediated signaling in Hirschsprung disease. Hum Mol Genet 5:303-307
116. Bidaud C, Salomon R, van Camp G, Pelet A, Attie T, Eng C et al (1997) Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. Eur J Hum Genet 5:247-251
117. Hofstra R, Valdenaire O, Arch E et al (1999) A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet (Letter) 64:304-308
118. Pingault V, Puliti A, Prehu M-O, Samadi A, Bondurand N, Goossens M (1997) Human homology and candidate genes for the dominant megacolon locus, a mouse model of Hirschsprung disease. Genomics 39:86-89
119. Doray B, Salomon R, Amiel J et al (1998) Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. Hum Mol Genet 7:1449-1452
120. Maka M, Stolt CC, Wegner M (2005) Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect. Dev Biol 277:155-169
121. Stanchina L, Van de Putte T, Goossens M, Huylebroeck D, Bondurand N (2010) Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development. Dev Biol 341:416-428
122. Lang D, Chen F, Milewski R, Li J, Lu MM, Epstein JA (2000) Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. J Clin Invest 106:963-971
123. Lang D, Epstein JA (2003) Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet 12:937-945
124. Zhu L, Lee HO, Jordan CS, Cantrell VA, Southard-Smith EM, Shin MK (2004) Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors. Nat Genet 36:732-737
125. Branski D, Denn NR, Neale JM, Brooks LJ (1979) Hirschsprungs disease and Waardenburghs syndrome. Pediatrics 63:803-806
126. Omenn GS, McKusick VA (1979) The association of Waardenburgh syndrome and Hirschsprungs megacolon. Am J Med Genet 3:217-223
127. Lankosz-Lauterbach J, Sanak M (1987) Oculoauriculovertebral syndrome (Goldenhar syndrome) associated with Hirschsprung disease. Pediatr Pol 62:249-252
128. Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP et al (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 12:445-447
129. Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra R (2002) ABCD Syndrome is caused by a homozygous mutation in the EDNRB Gene. Am J Med Genet 108:223-225
130. Mahakrishnan A, Srinivasan MS (1980) Piebaldness with Hirschsprung's disease. Arch Dermatol 116:1102
131. Makitie O, Heikkinen M, Kaitila I, Rintala R (2002) Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. J Pediatr Surg 37:1585-1588
132. Reicherter K, Veeramani AI, Jagadeesh S (2011) Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. Indian Pediatr 48:559-561
133. Sulisalo T, Sistonen P, Hastbacka J, Wadelius C, Makitie O, de la Chapelle A, Kaitila I (1993) Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nat Genet 3:338-341
134. Mallory SB, Haynie LS, Williams ML, Hall W (1989) Ichthyosis, deafness, and Hirschsprung's disease. Pediatr Dermatol 6:24-27
135. Nadir E, Yerman S, Feldman M (2005) A female neonate with Hirschsprung's disease and ichthyosis. Isr Med Assoc J 7:342-343
136. Lesca G, Sinilnikova O, Theuil G, Blanc J, Edery P, Till M (2005) Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: No difference in deletion size for patients with and without mental retardation. Clin Genet 67:367-368
137. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T et al (2005) Mutations in ABCA12 underlie the severe congenital skin disease Harlequin Ichthyosis. Am J Hum Genet 76:794-803
138. Gallego J, Dauger S (2008) PHOX2B mutations and ventilatory control. Respir Physiol Neurobiol 164:49-54
139. Coppola E, d'Autreaux F, Rijli FM, Brunet JF (2010) Ongoing roles of Phox2 homeodomain transcription factors during neuronal differentiation. Development 137:4211-4220
140. Croaker GD, Shi E, Simpson E, Cartmill T, Cass DT (1998) Congenital central hypoventilation syndrome and Hirschsprungs disease. Arch Dis Child 78:316-322
141. Fitze G, Konig IR, Paditz E, Serra A, Schlafke M, Roesner D et al (2008) Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease. Am J Med Genet A 146A:1486-1489
142. Leon TY, Ngan ES, Poon HC, So MT, Lui VC, Tam PK, Garcia-Barcelo MM (2009) Transcriptional regulation of RET by Nk2-1, Phox2b, Sox10, and Pax3. J Pediatr Surg 44:1904-1912
143. Hou L, Pavan WJ, Shin MK, Arnheiter H (2004) Cell-autonomous and cell non-autonomous signaling through endothelin receptor B during melanocyte development. Development 131:3239-3247
144. Patterson K, Toomey KE, Chandra RS (1983) Hirschsprung disease in a 46, XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. J Pediatr 103:425-427
145. Rakheja D, Wilson GN, Rogers BB (2003) Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former. Pediatr Dev Pathol 6:270-277
146. Islek I, Kucukoduk S, Erkan D, Bernay F, Kalayci AG, Gork S et al (1996) Bardet-Biedl syndrome: Delayed diagnosis in a child with Hirschsprung disease. Clin Dysmorphol 5:271-273
147. Lorda-Sanchez I, Ayuso C, Ibanez A (2000) Situs inversus and hirschsprung disease: Two uncommon manifestations in Bardet-Biedl syndrome. Am J Med Genet 90:80-81
148. Hou JW (2004) Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. J Formos Med Assoc 103:629-632
149. Hurst JA, Markiewicz M, Kumar D, Brett EM (1988) Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: A new syndrome of defective neuronal migration. J Med Genet 25:494-497
150. Forsythe E, Beales PL (2012) Bardet-Biedl syndrome. Eur J Hum Genet (e-published before print) 151. Eichers ER, Lewis RA, Katsanis N, Lupski JR (2004) Triallelic inheritance: A bridge between Mendelian and multifactorial traits. Ann Med 36:262-272
151. de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H et al (2009) Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci USA 106:13921-13926
152. McGaughran J, Sinnott S, Moal FD, Wilson M, Mowat D, Sutton B, Goossens M (2005) Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. Am J Med Genet A 137:302-304
153. Cecconi M, Forzano F, Garavelli L, Pantaleoni C, Grasso M, Bricarelli D et al (2008) Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. Am J Med Genet A 146A:3095-3099
154. Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N (2008) Mowat-Wilson syndrome affecting 3 siblings. J Child Neurol 23:274-278
155. Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P et al (2005) Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet 48:97-111
156. Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B et al (2006) Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A 140:2730-2741
157. Garavelli L, Mainardi PC (2007) Mowat-Wilson syndrome. Orphanet J Rare Dis 2:42
158. Ariss M, Natan K, Friedman N, Traboulsi EI. (2012) Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. Ophthalmic Genet
159. Gregory-Evans CY, Vieira H, Dalton R, Adams GG, Salt A, Gregory-Evans K (2004) Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. Am J Med Genet A 131:86-90
160. stot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M (2007) ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat 28:313-321
161. Bonnard A, Zeidan S, Degas V, Viala J, Baumann C, Berrebi D, P et al (2009) Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome. J Pediatr Surg 44:587-591
162. Ishihara N, Shimada A, Kato J, Niimi N, Tanaka S, Miura K et al (2005) Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome. J Pediatr Surg 40:1411-1419
163. Murphy HR, Carver MJ, Brooks AS, Kenny SE, Ellis IH (2006) Two brothers with Goldberg-Shprintzen syndrome. Clin Dysmorphol 15:165-169
164. Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG et al (2005) Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Hum Genet 77:120-126
165. Alves MM, Burzynski G, Delalande JM, Osinga J, van der Goot A, Dolga AM et al (2010) KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation. Hum Mol Genet 19:3642-3651
166. Alves MM, Osinga J, Verheij JB, Metzger M, Eggen BJ, Hofstra RM (2010) Mutations in SCG10 are not involved in Hirschsprung disease. PLoS ONE 5:e15144
167. Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH et al (1999) A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). J Med Genet 36:485-489
168. Shahar E, Shinawi M (2003) Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease. Pediatr Neurol 28:385-391
169. Decker RA, Peacock ML (1998) Occurrence of MEN 2a in familial Hirschsprung's disease: A new indication for genetic testing of the RET proto-oncogene. J Pediatr Surg 33:207-214
170. Dvorakova S, Dvorakova K, Malikova M, Skaba R, Vlcek P, Bendlova B (2005) A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease. J Pediatr Surg 40:e1-e6
171. Caron P, Attie T, David D, Amiel J, Brousset F, Roger P, Munnich A, Lyonnet S et al (1996) C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease. J Clin Endocrinol Metab 81:2731-2733
172. Peretz H, Luboshitsky R, Baron E, Biton A, Gershoni R, Usher S et al (1997) Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting. Hum Mutat 10:155-159
173. Romeo G, Ceccherini I, Celli J, Priolo M, Betsos N, Bonardi G et al (1998) Association of multiple endocrine neoplasia type 2 and Hirschsprung disease. J Intern Med 243:515-520
174. Sijmons RH, Hofstra RM, Wijburg FA, Links TP, Zwierstra RP, Vermey A et al (1998) Oncological implications of RET gene mutations in Hirschsprung's disease. Gut 43:542-547
175. Verdy M, Weber AM, Roy CC, Morin CL, Cadotte M, Brochu P (1982) Hirschsprung's disease in a family with multiple endocrine neoplasia type 2. J Pediatr Gastroenterol Nutr 1:603-607
176. Borst MJ, VanCamp JM, Peacock ML, Decker RA (1995) Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease. Surgery 117:386-391
177. Blank RD, Sklar CA, Dimich AB, LaQuaglia MP, Brennan MF (1996) Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds. Cancer 78:1996-2003
178. Borrego S, Eng C, Sanchez B, Saez ME, Navarro E, Antinolo G (1998) Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease. J Clin Endocrinol Metab 83:3361-3364
179. Inoue K, Shimotake T, Inoue K, Tokiwa K (1999) Mutational analysis of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease. J Pediatr Surg 34:1552-1554
180. Pasini B, Rossi R, Ambrosio MR, Zatelli MC, Gullo M, Gobbo M et al (2002) RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease. Surgery 131:373-381
181. Moore SW, Zaahl MG (2008) Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET. Pediatr Surg Int 24:521-530
182. Moore SW, Zaahl M (2010) Familial associations in medullary thyroid carcinoma with Hirschsprung disease: The role of the RET-C620 ''Janus'' genetic variation. J Pediatr Surg 45:393-396
183. Moore SW, Zaahl M (2012) The Hirschsprung's-multiple endocrine neoplasia connection. Clinics. (Sao Paulo) 67(Suppl 1):63-67
184. Butter A, Gagne J, Al Jazaeri A, Emran MA, Deal C, St Vil D (2007) Prophylactic thyroidectomy in pediatric carriers of multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma: Mutation in C620 is associated with Hirschsprung's disease. J Pediatr Surg 42:203-206
185. Sasaki Y, Shimotake T, Go S, Iwai N (2001) Total thyroidectomy for hereditary medullary thyroid carcinoma 12 years after correction of Hirschsprung's disease. Eur J Surg 167:467-469
186. Clausen N, Andersson P, Tommerup N (1989) Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome. Acta Paediatr Scand 78:736-741
187. Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G et al (2004) Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet 74:761-764
188. Weese-Mayer DE, Berry-Kravis EM, Marazita ML (2005) In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Respir Physiol Neurobiol 149:73-82