Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: A new polyalanine disorder?

Journal of Medical Genetics

Volumn 47, Issue 5, 2010, Pages 351-355

  Wessels, Marja W ^a   Kuchinka, Brian ^b   Heydanus, Rogier ^c   Smit, Bert J ^d   Dooijes, Dennis ^a   De Krijger, Ronald R ^a   Lequin, Maarten H ^d   De Jong, Elisabeth M ^d   Husen, Margreet ^a   Willems, Patrick J ^e   Casey, Brett ^b  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c AMPHIA HOSPITAL   (Netherlands)

^d SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^e Genetic Diagnostics Belgium   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; NUCLEOTIDE;

ANUS ATRESIA; ARTICLE; CARDIOVASCULAR MALFORMATION; CASE REPORT; CHROMOSOME; CODING; ESOPHAGUS ATRESIA; ESOPHAGUS FISTULA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE INSERTION; GENOTYPE; HETEROTAXY SYNDROME; HUMAN; KIDNEY MALFORMATION; LIMB DEFECT; MALE; MUTATION; NEWBORN; PRIORITY JOURNAL; SUPERIOR CAVA VEIN; VERTEBRA MALFORMATION; X CHROMOSOME LINKED DISORDER; ZIC3 GENE;

ABNORMALITIES, MULTIPLE; ANUS, IMPERFORATE; FEMALE; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HEART DEFECTS, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; MALE; PEPTIDES; PREGNANCY; TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEAT EXPANSION; ZINC FINGERS;

FISTULA;

EID: 77953694949     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.060913     Document Type: Article

References (33)

1. Casey B, Devoto M, Jones KL, Ballabio A. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet 1993; 5:403-7.
2. Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B. A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet 1997;61:395-401.
3. Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 1997;17:305-8.
4. Megarbane A, Salem N, Stephan E, Ashoush R, Lenoir D, Delague V, Kassab R, Loiselet J, Bouvagnet P. X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur J Hum Genet 2000;8:704-8.
5. Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 2004;74:93-105.
6. Kallen K, Mastroiacovo P, Castilla EE, Robert E, Kallen B. VATER non-random association of congenital malformations: study based on data from four malformation registers. Am J Med Genet 2001;101:26-32.
7. Weaver DD, Mapstone CL, Yu PL. The VATER association. Analysis of 46 patients. Am J Dis Child 1986;140:225-9.
8. Shaw-Smith C. Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. J Med Genet 2006;43:545-54. (Pubitemid 44048759)
9. Brunner HG, van Bokhoven H. Genetic players in esophageal atresia and tracheoesophageal fistula. Curr Opin Genet Dev 2005;15:341-7.
10. Genevieve D, de Pontual L, Amiel J, Sarnacki S, Lyonnet S. An overview of isolated and syndromic oesophageal atresia. Clin Genet 2007;71:392-9.
11. Purandare SM, Chitayat D, Ferrero GB, Kashork CD, Marino B, Schaffer LG, Casey B. VACTERL-H features associated with a deletion of ZIC3 in Xq26.2. Am J Hum Genet 1999:65(Suppl):A70, Abstract 370.
12. Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, Mutchinick OM, Borman B, Cocchi G, Czeizel AE, Goujard J, Irgens LM, Lancaster PA, Martinez-Frias ML, Merlob P, Ruusinen A, Stoll C, Sumiyoshi Y. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet 1997;71:8-15.
13. de Jong EM, Felix JF, Deurloo JA, van Dooren MF, Aronson DC, Torfs CP, Heij HA, Tibboel D. Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. Birth Defects Res A Clin Mol Teratol 2008;82:92-7.
14. Keckler SJ, St Peter SD, Valusek PA, Tsao K, Snyder CL, Holcomb GW 3rd, Ostlie DJ. VACTERL anomalies in patients with esophageal atresia: an updated delineation of the spectrum and review of the literature. Pediatr Surg Int 2007;23:309-13.
15. Torfs CP, Curry CJ, Bateson TF. Population-based study of tracheoesophageal fistula and esophageal atresia. Teratology 1995;52:220-32.
16. Cieri MV, Arnold GL, Torfs CP. Malrotation in conjunction with esophageal atresia/ tracheo-esophageal fistula. Teratology 1999;60:114-6.
17. Luo CC, Lin JN, Lien R, Chu SM. A new variant of esophageal atresia with distal tracheo-antral fistula associated with congenital intrathoracic stomach and situs inversus. J Pediatr Surg 2003;38:E25-7.
18. Shenoy VG, Jawale SA, Oak SN, Kulkarni BK. Esophageal atresia with distal tracheoesophageal fistula associated with situs inversus. Pediatr Surg Int 2001;17:538-9.
19. Tzschach A, Hoeltzenbein M, Hoffmann K, Menzel C, Beyer A, Ocker V, Wurster G, Raynaud M, Ropers HH, Kalscheuer V, Heilbronner H. Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. Eur J Hum Genet 2006;14:1317-20.
20. Lavoie H, Debeane F, Trinh QD, Turcotte JF, Corbeil-Girard LP, Dicaire MJ, Saint-Denis A, Page M, Rouleau GA, Brais B. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Hum Mol Genet 2003;12:2967-79.
21. Amiel J, Trochet D, Clement-Ziza M, Munnich A, Lyonnet S. Polyalanine expansions in human. Hum Mol Genet 2004;13 Spec No 2:R235-43.
22. Albrecht AN, Kornak U, Boddrich A, Suring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet 2004; 13:2351-9.
23. Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado MA, Hall BD, Reynolds JF, Sommer A, Wieczorek D, Brown SA, Muenke M. Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. Hum Mol Genet 2001;10:791-6.
24. Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RC, Muenke M. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet 1998;20:180-3.
25. Brown L, Paraso M, Arkell R, Brown S. In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation. Hum Mol Genet 2005;14:411-20.
26. Orioli IM, Castilla EE, Ming JE, Nazer J, Burle de Aguiar MJ, Llerena JC, Muenke M. Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly. Hum Genet 2001;109:1-6.
27. Caburet S, Demarez A, Moumne L, Fellous M, De Baere E, Veitia RA. A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation. J Med Genet 2004;41:932-6.
28. Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schober JG, Ravazzolo R, Ottonello G, Ceccherini I. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. J Med Genet 2004;41:373-80.
29. Trochet D, Hong SJ, Lim JK, Brunet JF, Munnich A, Kim KS, Lyonnet S, Goridis C, Amiel J. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Hum Mol Genet 2005;14:3697-708.
30. Moumne L, Dipietromaria A, Batista F, Kocer A, Fellous M, Pailhoux E, Veitia RA. Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development. Hum Mol Genet 2008;17:1010-9.
31. Nasrallah IM, Minarcik JC, Golden JA. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. J Cell Biol 2004;167:411-6.
32. Calado A, Tome FM, Brais B, Rouleau GA, Kuhn U, Wahle E, Carmo-Fonseca M. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet 2000;9:2321-8.
33. Koyabu Y, Nakata K, Mizugishi K, Aruga J, Mikoshiba K. Physical and functional interactions between Zic and Gli proteins. J Biol Chem 2001;276:6889-92.