Pallister-Hall syndrome has gone the way of modern medical genetics

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

Volumn 166, Issue 4, 2014, Pages 414-418

  Hall, Judith G ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Anal anomalies; GLI3; Hypopituitary; Hypothalamic hamartoblastoma; Hypothalamic hamartomas; Multiple congenital anomalies, history; Pallister Hall syndrome; Polydactyly

Indexed keywords

SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI3;

ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DNA POLYMORPHISM; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LETHALITY; MEDICAL GENETICS; NOMENCLATURE; PALLISTER HALL SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SYNDROME DELINEATION; GENETICS; HISTORY; PALLISTER-HALL SYNDROME;

GENETICS, MEDICAL; HISTORY, 20TH CENTURY; HISTORY, 21ST CENTURY; HUMANS; PALLISTER-HALL SYNDROME;

EID: 84919413792     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31419     Document Type: Article

References (64)

1. Azzam A, Lerner DM, Peters KF, Wiggs E, Rosenstein DL, Biesecker LG. 2005. Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. Clin Genet 67:87-92.
2. Barna M, Pandolfi PP, Niswander L. 2005. Gli3 and Plzf cooperate in proximal limb patterning at early stages of limb development. Nature 436:277-281.
3. Biesecker LG. 2006. What you can learn from one gene: GLI3. J Med Genet 43:465-469.
4. Biesecker LG. 2010. Pallister-Hall syndrome and Greig cephalopolysyndactyly syndrome. In: Cassidy SB, Allanson JE, editors. Management of genetic syndromes, 3rd edition. Hoboken, NJ: John Wiley & Sons, Inc. pp 615-624.
5. Biesecker LG. 2012. Pallister-Hall syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1465/ (accessed 23 July 2014).
6. Biesecker LG, Graham JM Jr. 1996. Syndrome of the month: Pallister-Hall syndrome. J Med Genet 33:585-589.
7. Biesecker LG, Topf K, Graham JM Jr. 1994. Familial Pallister-Hall syndrome. J Med Genet 31:740.
8. Biesecker LG, Abbott M, Allen J, Clericuzio C, Feuillan P, Graham JM Jr, Hall J, Kang S, Olney AH, Lefton D, Neri G, Peters K, Verloes A. 1996a. Report from the workshop on Pallister-Hall syndrome and related phenotypes. Am J Med Genet 65:76-81.
9. Biesecker LG, Kang S, Schaffer AA, Abbott M, Kelley RI, Allen JC, Clericuzio C, Grebe T, Haskins-Olney A, Graham JM Jr. 1996b. Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. J Med Genet 33:947-951.
10. Bonnemann CG, Lee MM, Krishnamoorthy KS. 1995. Pallister-Hall syndrome: Further delineation of mild phenotype. Pediatr Neurol 11:146.
11. Böse J, Grotewold L, Rüther U. 2002. Pallister-Hall syndrome phenotype in mice mutant for Gli3. Hum Mol Genet 11:1129-1135.
12. Cheng K, Sawamura Y, Yamauchi T, Abe H. 1993. Asymptomatic large hypothalamic hamartoma associated with polydactyly in an adult. Neurosurgery 32:458-460.
13. Clarren SK, Alvord EC, Hall JG. 1980. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-A new syndrome? Part II: Neuropathological considerations. Am J Med Genet 7:75-83.
14. Craig DW, Itty A, Panganiban C, Szelinger S, Kruer MC, Sekar A, Reiman D, Narayanan V, Stephan DA, Kerrigan JF. 2008. Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. Am J Hum Genet 82:366-374.
15. Culler FL, Jones KL. 1984. Hypopituitarism in association with postaxial polydactyly. J Pediatr 104:881-884.
16. Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T. 2014. New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet 2014 16. doi: 10.1038/ejhg.2014.62. [Epub ahead of print]
17. Elson E, Perveen R, Donnai D, Wall S, Black GC. 2002. De novo GLI3 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet 39:804-806.
18. Encha-Razavi F, Laroche JC, Roume J, Migne G, Delezoide AL, Gonzales M, Mulliez N. 1992. Congenital hypothalamic hamartoma syndrome: Nosological discussion and minimum diagnostic criteria of a possibly familial form. Am J Med Genet 42:44-50.
19. Finnigan DP, Clarren SK, Haas JE. 1991. Extending the Pallister-Hall syndrome to include other central nervous system malformations. Am J Med Genet 40:395-400.
20. Galasso C, Scirè G, Fabbri F, Spadoni GL, Killoran CE, Biesecker LG, Boscherini B. 2001. Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. Am J Med Genet 99:128-131.
21. Graham JM Jr, Brown FE, Saunders RL, Hinkle AJ, Frank JE, Harris MS, Klein RZ. 1985. Bifid epiglottis, hand abnormalities, and congenital hypopituitarism. Lancet 2:443.
22. Graham JM Jr, Saunders R, Fratkin J, Spiegel P, Harris M, Klein RZ. 1986. A cluster of Pallister-Hall cases, (congenital hypothalamic hamartoblastoma syndrome). Am J Med Genet Suppl 2:53-63.
23. Grebe TA, Clericuzio C. 1996. Autosomal dominant inheritance of a hypothalamic hamartoma associated with polysyndactyly: A case of genetic heterogeneity or variable expressivity. Am J Med Genet 66:129-137.
24. Hall JG, Pallister SK, Clarren SK, Beckwith JB, Wigglesworth FW, Fraser FC, Benke PJ, Reed SD. 1980. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-A new syndrome? Part I: Clinical, causal, and pathogenetic considerations. Am J Med Genet 7:47-74.
25. Hennekam RC, Beemer FA, Van Merrienboer F, Van Ketel BA, Kramer PP. 1986. Congenital hypothalamic hamartoma associated with severe midline defect: A developmental field defect. Report of a case. Am J Med Genet Suppl 2:45-52.
26. Hingorani SR, Pagon RA, Shepard TH, Kapur RP. 1991. Twin fetuses with abnormalities that overlap three midline malformation complexes. Am J Med Genet 41:230-235.
27. Huff DS, Fernandes M. 1982. Two cases of congenital hypothalamic hamartoblastoma, polydactyly, and other congenital abnormalities (Pallister-Hall syndrome). N Engl J Med 306:430-431.
28. Hunter P, Gallagher T. 1993. Pallister-Hall syndrome in siblings-A case report and review of the literature. Clin Res 42:52A4.
29. Iafolla K, Fratkin JD, Spiegel PK, Cohen MM Jr, Graham JM Jr. 1989. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome). Am J Med Genet 33:489-499.
30. Jamsheer A, Sowińska A, Trzeciak T, Jamsheer-Bratkowska M, Geppert A, Latos-Bieleńska A. 2012. Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. J Appl Genet 53:415-422.
31. Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. 2005. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 76:609-622.
32. Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, König R, Kunze J, Meinecke P, Müller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH. 1999. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet 8:1769-1777.
33. Kang S, Graham JM Jr, Olney AH, Biesecker LG. 1997. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 15:266-268.
34. Kuller JA, Cox VA, Schonberg SA, Golabi M. 1992. Pallister-Hall syndrome associated with an unbalanced chromosome translocation. Am J Med Genet 43:647-650.
35. Low M, Moringlane JR, Reif J, Barbier D, Beige G, Kolles H, Kujat C, Zang KD, Henn W. 1995. Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: A variant of the Pallister-Hall syndrome. Clin Genet 48:208-212.
36. Marcuse PM, Burger RA, Salmon GW. 1953. Hamartoma of the hypotha1amus. Report of two cases with associated developmental defects. J Pediatr 43:301-308.
37. Muenke M, Ruchelli ED, Rorke LB, McDonald-McGinn DM, Orlow MK, Isaacs A, Craparo FJ, Dunn LK, Zackai EH. 1991. On lumping and splitting: A fetus with clinical findings of the oralfacial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. Am J Med Genet 41:548-556.
38. Narumi Y, Kosho T, Tsuruta G, Shiohara M, Shimazaki E, Mori T, Shimizu A, Igawa Y, Nishizawa S, Takagi K, Kawamura R, Wakui K, Fukushima Y. 2010. Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. Am J Med Genet Part A 152A:3143-3147.
39. Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG. 2004. Gonadal mosaicism in severe Pallister-Hall syndrome. Am J Med Genet Part A 124A:296-302.
40. Nurbhai MA, Tomlinson BE, Lorigan-Forsythe B. 1985. Infantile hypothalamic hamartoma with multiple congenital anomalies. Neuropath Appl Neurobiol 11:61-70.
41. Ondrey F, Griffith A, Van Waes C, Rudy S, Peters K, McCullagh L, Biesecker LG. 2000. Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. Am J Med Genet 94:64-67.
42. Pallister P. 2014. The study of genetic syndromes in a rural setting. Am J Med Genet Part C 166.
43. Pallister PD, Hecht F, Herrmann J. 1989. Three additional cases of the congenital hypothalamic "hamartoblastoma" (Pallister-Hall) syndrome. Am J Med Genet 33:500-501.
44. Penman Splitt M, Wright C, Perry R, Bum J. 1994. Autosomal dominant transmission of the Pallister-Hall syndrome. Clin Dysmorphol 3:301-308.
45. Quinn ME, Haaning A, Ware SM. 2012. Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice. Hum Mol Genet 21:1888-1896.
46. Radhakrishna U, Wild A, Grzeschik KH, Antonarakis SE. 1997. Mutation in GLI3 in postaxial polydactyly type A. Nat Genet 17:269-271.
47. Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE. 1999. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet 65:645-655.
48. Richter RB. 1951. True hamartoma of the hypothalamus associated with pubertas praecox. J Neuropathol Exp Neurol 10:368-383.
49. Roscioli T, Kennedy D, Cui J, Fonseca B, Watson GF, Pereira J, Xie YG, Mowat D. 2005. Pallister-Hall syndrome: Unreported skeletal features of a GLI3 mutation. Am J Med Genet Part A 136A:390-394.
50. Sama A, Mason JD, Gibbin KP, Young ID, Hewitt M. 1994. The Pallister-Hall syndrome. J Med Genet 31:740.
51. Sills IN, Rapaport R, Robinson P, Lieber C, Shih LY, Horlick MNB, Schwartz M, Desposito F. 1993. Familial Pallister-Hall syndrome: Case report and hormonal evaluation. Am J Med Genet 47:321-325.
52. Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW. 2013. A de novo GLI3 mutation in a patient with acrocallosal syndrome. Am J Med Genet Part A 161A:1394-1400.
53. Stephan MJ, Brooks KL, Moore DC, Coll EJ, Goho C. 1994. Hypothalamic hamartoma in oral-facial digital syndrome type VI (Vkadi syndrome). Am J Med Genet 51:131-136.
54. Stoll C, De Saint Martin A, Donato L, Alembik K, Sauvage P, Messer J. 2001. Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. Genet Couns 12:231-235.
55. Thomas HM, Todd PJ, Heaf D, Fryer AE. 1994. Recurrence of Pallister-Hall syndrome in two sibs. J Med Genet 31:145-147.
56. Topf KF, Kletter GB, Kelch RP, Brunberg JA, Biesecker LG. 1993. Autosomal dominant transmission of the Pallister-Hall syndrome. J Pediatr 123:943-946.
57. Unsinn KM, Neu N, Krejci A, Posch A, Menardi G, Gassner I. 1995. Pallister-Hall syndrome and McKusick-Kaufmann syndrome: One entity? J Med Genet 32:125-128.
58. Verloes A, Gillerot Y, Langhendries J-P, Fryns J-P, Koulischer L. 1992. Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. Am J Med Genet 43:669-677.
59. Verloes A, David A, Ngô L, Bottani A. 1995. Stringent delineation of Pallister-Hall syndrome in two long-surviving patients: Importance of radiologic anomalies of the hands. J Med Genet 32:605-611.
60. Villavicencio EH, Walterhouse DO, Iannaccone PM. 2000. The sonic hedgehog-patched-gli pathway in human development and disease. Am J Hum Genet 67:1047-1054.
61. Vortkamp A, Gessler M, Grzeschik KH. 1991. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352:539-540.
62. Wang Z, Wang J, Li Y, Geng J, Fu Q, Xu Y, Shen Y. 2014. Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients. Clin Chim Acta 433:195-199.
63. Winter WE, Rosenbloom AL, Maclaren NK, Mickle JP. 1982. Solitary central maxillary incisor associated with precocious puberty and hypothalamic hamartoma. J Pediatr 101:965-967.
64. Zguricas J, Heus H, Morales-Peralta E, Breedveld G, Kuyt B, Mumcu EF, Bakker W, Akarsu N, Kay SP, Hovius SE, Heredero-Baute L, Oostra BA, Heutink P. 1999. Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9cM region on chromosome 7q36. J Med Genet 36:32-40.