Situs Inversus Totalis and a Novel ZIC3 Mutation in a Family with X-linked Heterotaxy

Congenital Heart Disease

Volumn 8, Issue 2, 2013, Pages

  D'Alessandro, Lisa C A ^a,b   Casey, Brett ^a,b   Siu, Victoria Mok ^c  

^a WESTERN UNIVERSITY   (Canada)

^b LONDON HEALTH SCIENCES CENTRE   (Canada)

^c BC CHILDREN S HOSPITAL   (Canada)

Author keywords

Heterotaxy; Laterality Defects; Situs Inversus Totalis; ZIC3

Indexed keywords

UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGERS IN CEREBELLUM 3;

ARTICLE; CAVA VEIN DISEASE; CLINICAL FEATURE; DEXTROCARDIA; DISEASE SEVERITY; FAMILY HISTORY; FEMALE; GENE LOCUS; GENETIC COUNSELING; HEART ATRIUM SEPTUM DEFECT; HEART VALVE STENOSIS; HETEROTAXY SYNDROME; HUMAN; INFERIOR CAVA VEIN; LEVOCARDIA; LINKAGE ANALYSIS; LONGITUDINAL STUDY; MALE; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; SITUS INVERSUS; SITUS INVERSUS TOTALIS;

ABNORMALITIES, MULTIPLE; DEXTROCARDIA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HETEROTAXY SYNDROME; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SITUS INVERSUS; TRANSCRIPTION FACTORS;

EID: 84875821964     PISSN: 1747079X     EISSN: 17470803     Source Type: Journal    
DOI: 10.1111/j.1747-0803.2011.00602.x     Document Type: Article

References (18)

1. Peeters H, Devriendt K. Human laterality disorders. Eur J Med Genet. 2006;49:349-362.
2. Ware SM, Peng J, Zhu L, etal. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet. 2004;74:93-105.
3. Soltan HC, Li MD. Hereditary dextrocardia associated with other congenital heart defects: report of a pedigree. Clin Genet. 1974;5:51-58.
4. Gebbia M, Ferrero GB, Pilia G, etal. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet. 1997;17:305-308.
5. Ware SM, Harutyunyan KG, Belmont JW. Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway. Dev Dyn. 2006;235:1631-1637.
6. Zhu L, Harutyunyan KG, Peng JL, Wang J, Schwartz RJ, Belmont JW. Identification of a novel role of ZIC3 in regulating cardiac development. Hum Mol Genet. 2007;16:1649-1660.
7. Lim LS, Loh YH, Zhang W, etal. Zic3 is required for maintenance of pluripotency in embryonic stem cells. Mol Biol Cell. 2007;18:1348-1358.
8. Bedard JE, Purnell JD, Ware SM. Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3. Hum Mol Genet. 2007;16:187-198.
9. Hatayama M, Tomizawa T, Sakai-Kato K, etal. Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain. Hum Mol Genet. 2008;17:3459-3473.
10. Adzhubei IA, Schmidt S, Peshkin L, etal. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248-249.
11. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073-1081.
12. Megarbane A, Salem N, Stephan E, etal. X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur J Hum Genet. 2000;8:704-708.
13. Chhin B, Hatayama M, Bozon D, etal. Elucidation of penetrance variability of a ZIC3 mutation in a family with complex congenital heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. Hum Mutat. 2007;28:563-570.
14. De Luca A, Sarkozy A, Consoli F, etal. Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart. 2010;96:673-677.
15. Tzschach A, Hoeltzenbein M, Hoffmann K, etal. 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;14:1317-1320.
16. Fritz B, Kunz J, Knudsen GP, etal. Situs ambiguus in a female fetus with balanced (X;21) translocation-evidence for functional nullisomy of the ZIC3 gene? Eur J Hum Genet. 2005;13:34-40.
17. Zhu L, Belmont JW, Ware SM. Genetics of human heterotaxias. Eur J Med Genet. 2006;14:17-25.
18. Ticho BS, Goldstein AM, Van Praagh R. Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures. Am J Cardiol. 2000;85:729-734.