Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 145, Issue 2, 2007, Pages 217-226

  Kantarci, Sibel ^a,b   Donahoe, Patricia K ^a,b,c,d  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d HARVARD STEM CELL INSTITUTE   (United States)

Author keywords

Congenital diaphragmatic hernia (CDH); Donnai Barrow syndrome; Fryns syndrome; Genetic pathways; Homozygosity mapping

Indexed keywords

CHICKEN OVALBUMIN UPSTREAM PROMOTER TRANSCRIPTION FACTOR 1; FOG2 PROTEIN; GENE PRODUCT; RETINOIC ACID; TRANSCRIPTION FACTOR GATA 4; UNCLASSIFIED DRUG;

BIRTH DEFECT; CHROMOSOMAL LOCALIZATION; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONFERENCE PAPER; CONGENITAL DIAPHRAGM HERNIA; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE SEVERITY; DONNAL BARROW SYNDROME; EMBRYO DEVELOPMENT; FLUORESCENCE IN SITU HYBRIDIZATION; FRYNS SYNDROME; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HUMAN; LINKAGE ANALYSIS; LUNG DEVELOPMENT; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; MOLECULAR GENETICS; MORBIDITY; MORTALITY; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 15; GUANIDINES; HERNIA, DIAPHRAGMATIC; HUMANS; KARYOTYPING; NUCLEIC ACID HYBRIDIZATION; PYRIDAZINES; SYNDROME;

ANIMALIA;

EID: 34249050085     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30132     Document Type: Conference Paper

References (61)

1. Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR. 2005. Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet 1:e10.
2. Ackerman KG, Wang J, Luo L, Fujiwara Y, Orkin SH, Beier DR. 2007. Gata4 is necessary for normal pulmonary lobar development. Am J Respir Cell Mol Biol 36:391-397.
3. Ahmad F, Seidman JG, Seidman CE. 2005. The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet 6:185-216.
4. Andersen DH. 1941. Incidence of congenital diaphragmatic hernia in the young of rats bred on a diet deficient in vitamin. Am J Dis Child 62:888-889.
5. Andersen DH. 1949. Effect of diet during pregnancy upon the incidence of congenital hereditary diaphragmatic hernia in the rat. Am J Pathol 25:163-185.
6. Anselmo MA, Dalvin S, Prodhan P, Komatsuzaki K, Aidlen JT, Schnitzer JJ, Wu JY, Kinane TB. 2003. Slit and robo: Expression patterns in lung development. Gene Expr Patterns 3:13-19.
7. Bellusci S, Furuta Y, Rush MG, Henderson R, Winnier G, Hogan BL. 1997. Involvement of Sonic hedgehog (Shh) in mouse embryonic lung growth and morphogenesis. Development 124:53-63.
8. Biggio JR, Descartes MD, Carroll AJ, Holt RL. 2004. Congenital diaphragmatic hernia: Is 15q26. 1-26.2 a candidate locus? Am J Med Genet Part A 126A:183-185.
9. Bullard JE, Wert SE, Nogee LM. 2006. ABCA3 deficiency: Neonatal respiratory failure and interstitial lung disease. Semin Perinatol 30:327-334.
10. Castiglia L, Fichera M, Romano C, Galesi O, Grillo L, Sturnio M, Failla P. 2005. Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results (letter). Am J Hum Genet 77:892-894.
11. Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E. 2003. Donnai-Barrow syndrome: Four additional patients. Am J Med Genet Part A 121A:258-262.
12. Czeizel E, Kovacs M. 1990. Genetic study of diaphragmatic defects. Orv Hetil 131:1193-1195.
13. David TJ, Illingworth CA. 1976. Diaphragmatic hernia in the south-west of England. J Med Genet 253-262.
14. Devriendt K, Standaert L, Van Hole C, Devlieger H, Fryns JP. 1998. Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia- deafness syndrome: Further evidence that the facio-oculo-acousticorenal syndrome represents the same entity. J Med Genet 35:70-71.
15. Donnai D, Barrow M. 1993. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: A newly recognized autosomal recessive disorder: Am J Med Genet 47:679-682.
16. Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA. 2004. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 36:1008-1013.
17. Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attie-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A. 2002. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 31:89-93.
18. Gallot D, Marceau G, Coste K, Hadden H, Robert-Gnansia E, Laurichesse H, Dechelotte PJ, Labbe A, Dastugue B, Lemery D, Sapin V. 2005. Congenital diaphragmatic hernia: A retinoid-signaling pathway disruption during lung development? Birth Defects Res A Clin Mol Teratol 3:523-531.
19. Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD. 2006. Ring chromosome 15: Characterization by array CGH. Hum Genet 118:611-617.
20. Greer JJ, Allan DW, Babiuk RP, Lemke RP. 2000. Recent advances in understanding the pathogenesis of nitrofen-induced congenital diaphragmatic hernia. Pediatr Pulmonol 29:394-399.
21. Grindley JC, Bellusci S, Perkins D, Hogan BL. 1997. Evidence for the involvement of the Gli gene family in embryonic mouse lung development. Dev Biol 188:337-338.
22. Hengstschlager M, Mittermayer C, Repa C, Drahonsky R, Deutinger J, Bernaschek G. 2004. Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: A new case and discussion of the literature. Fetal Diagn Ther 19:510-512.
23. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949-951.
24. Jay PY, Bielinska M, Erlich JM, Mannisto S, Pu WT, Heikinheimo M, Wilson DB. 2007. Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects. Dev Biol 301:602-614.
25. Jugessur A, Murray JC. 2005. Orofacial clefting: Recent insights into a complex trait. Curr Opin Genet Dev 15:270-278.
26. Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Blaise F, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR. 2006. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome. Am J Med Genet Part A 140A:17-23.
27. Kim IM, Ramakrishna S, Gusarova GA, Yoder HM, Costa RH, Kalinichenko VV. 2005. The forkhead box m1 transcription factor is essential for embryonic development of pulmonary vasculature. J Biol Chem 280:22278-22286.
28. Kimura Y, Suzuki T, Kaneko C, Darnel AD, Moriya T, Suzuki S, Handa M, Ebina M, Nukiwa T, Sasano H. 2002. Retinoid receptors in the developing human lung. Clin Sci (Lond) 103:613-621.
29. Klaassens M, van Dooren M, Eussen HJ, Douben H, den Dekker AT, Lee C, Donahoe PK, Galjaard RJ, Goemaere N, de Krijger RR, Wouters C, Wauters J, Oostra BA, Tibboel D, de Klein A. 2005a. Congenital diaphragmatic hernia and chromosome 15q26: Determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 76:877-882.
30. Klaassens M, Tibboel D, Oostra BA, de Klein A. 2005b. Reply to Castiglia et al. Letter. Am J Hum Genet 77:894-895.
31. Kluth D, Keijzer R, Hertl M, Tibboel D. 1996. Embryology of congenital diaphragmatic hernia. Semin Pediatr Surg 5:224-233.
32. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. 2002. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32:285-289.
33. Kreidberg JA, Sariola H, Loring JM, Maeda M, Pelletier J, Housman D, Jaenisch R. 1993. WT-1 is required for early kidney development. Cell 74:679-691.
34. Kumar VH, Lakshminrusimha S, El Abiad MT, Chess PR, Ryan RM. 2005. Growth factors in lung development. Adv Clin Chem 40:261-316.
35. Lidral AC, Murray JC. 2004. Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model. Birth Defects Res A Clin Mol Teratol 70:893-901.
36. Litingtung Y, Lei L, Westphal H, Chiang C. 1998. Sonic hedgehog is essential to foregut development. Nat Genet 20:58-61.
37. Liu J, Zhang L, Wang D, Shen H, Jiang M, Mei P, Hayden PS, Sedor JR, Hu H. 2003. Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice. Mech Dev 120:1059-1070.
38. Louw JH, Barnard CN. 1955. Congenital intestinal atresia; observations on its origin. Lancet 269:1065-1067.
39. Lurie IW. 2003. Where to look for the genes related to diaphragmatic hernia? Genet Couns 14:75-93.
40. Moore AW, Schedl A, McInnes L, Doyle M, Hecksher-Sorensen J, Hastie ND. 1998. YAC transgenic analysis reveals Wilms' tumour 1 gene activity in the proliferating coelomic epithelium, developing diaphragm and limb. Mech Dev 79:169-184.
41. Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nurnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernandez-Martinez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nurnberg P, Reis A, Rauch A. 2007. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 80:550-560.
42. Pepicelli CV, Lewis PM, McMahon AP. 1998. Sonic hedgehog regulates branching morphogenesis in the mammalian lung. Curr Biol 8:1083-1086.
43. Pober BR, Lin A, Russell M, Ackerman KG, Chakravorty S, Strauss B, Westgate MN, Wilson J, Donahoe PK, Holmes LB. 2005. Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospitalbased malformation surveillance program. Am J Med Genet Part A 138A:81-88.
44. Rogers JC, Harris DJ, Pasztor LM. 1995. Interstitial deletion of the long arm of chromosome 1: Del(1)(pter!42.11:q42.3!q-ter). Am J Hum Genet 57:A125.
45. Schlembach D, Zenker M, Trautmann U, Ulmer R, Beinder E. 2001. Deletion 15q 24-26in prenatally detected diaphragmatic hernia: Increasing evidence of a candidate region for diaphragmatic development. Prenat Diagn 21:289-292.
46. Scott DA, Klaassens M, Holder AM, Lally KP, Fernandes CJ, Galjaard RJ, Tibboel D, de Klein A, Lee B. 2007. Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet 16:424-430.
47. Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D. 2005. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet 42:730-736.
48. Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA. 2006. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: Mapping of four CDH-critical regions and sequencing of candidate genes at 15q26. 1-15q26.2. Eur J Hum Genet 14:999-1008.
49. Smith SA, Martin KE, Dodd KL, Young ID. 1994. Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. Clin Dysmorphol 3:287-291.
50. Suen HC, Bloch KD, Donahoe PK. 1994. Antenatal glucocorticoid corrects pulmonary immaturity in experimentally induced congenital diaphragmatic hernia in rats. Pediatr Res 35:523-529.
51. Thebaud B, Tibboel D, Rambaud C, Mercier JC, Bourbon JR, Dinh-Xuan AT, Archer SL. 1999. Vitamin A decreases the incidence and severity of nitrofen-induced congenital diaphragmatic hernia in rats. Am J Physiol 277:L423-L429.
52. Thomalla JV, Rudolph RA, Rink RC, Mitchell ME. 1985. Induction of cloacal exstrophy in the chick embryo using the CO2 laser. J Urol 134:991-995.
53. Tonnies H, Schulze I, Hennies H, Neumann LM, Keitzer R, Neitzel H. 2001. De novo terminal deletion of chromosome 15q26. 1 characterised by comparative genomic hybridisation and FISH with locus specific probes. J Med Genet 38:617-621.
54. Turner Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brondum-Nielsen K. 2004. Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. Am J Med Genet Part A 130A:340-344.
55. Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG. 2004. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955-957.
56. Wilson JG, Roth CB, Warkany J. 1953. An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation. Am J Anat 92:189-217.
57. Xian J, Clark KJ, Fordham R, Pannell R, Rabbitts TH, Rabbitts PH. 2001. Inadequate lung development and bronchial hyperplasia in mice with a targeted deletion in the Dutt1/Robo1 gene. Proc Natl Acad Sci USA 98:15062-15066.
58. You LR, Takamoto N, Yu CT, Tanaka T, Kodama T, Demayo FJ, Tsai SY, Tsai MJ. 2005. Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. Proc Natl Acad Sci USA 102:16351-16356.
59. Youssoufian H, Chance P, Tuck-Muller CM, Jabs EW. 1988. Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: Assignment of a human ferritin gene. Hum Genet 78:267-270.
60. Yuan W, Rao Y, Babiuk RP, Greer JJ, Wu JY, Ornitz DM. 2003. A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3. Proc Natl Acad Sci USA 100:5217-5222.
61. Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu YE, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC. 2004. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351:769-780.