ZIC3

Pathology

 ZIC3 mutations in

• X-linked visceral heterotaxy (MIM.306955)
  • situs ambiguus with asplenia and transposition of the great arteries (TGA) with a balanced t(X;21)(q26;p13) (15470371)

• non-heterotaxy cardiac malformations (congenital heart diseases)
  • atrial septal defect
  • pulmonic stenosis
  • X-linked transposition of the great arteries (TGA) (first zinc finger of ZIC3) (17295247)

Animal models

 altered embryonic murine Zic3 expression following targeted insertion of a PGK-NEO cassette (17127413)

See also

 ZICS: ZIC1, ZIC2, ZIC3, ZIC4, ZIC5

References

 Zhu L, Peng JL, Harutyunyan KG, Garcia MD, Justice MJ, Belmont JW. Craniofacial, skeletal, and cardiac defects associated with altered embryonic murine Zic3 expression following targeted insertion of a PGK-NEO cassette. Front Biosci. 2007 Jan 1;12:1680-90. PMID: 17127413

 Chhin B, Hatayama M, Bozon D, Ogawa M, Schon P, Tohmonda T, Sassolas F, Aruga J, Valard AG, Chen SC, Bouvagnet P. Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. Hum Mutat. 2007 Feb 12; PMID: 17295247

 Ware SM. DNA mutation analysis in heterotaxy. Methods Mol Med. 2006;126:247-56. PMID: 16930017

 Grinberg I, Millen KJ. The ZIC gene family in development and disease.
Clin Genet. 2005 Apr;67(4):290-6. PMID: 15733262

 Belmont JW, Mohapatra B, Towbin JA, Ware SM. Molecular genetics of heterotaxy syndromes. Curr Opin Cardiol. 2004 May;19(3):216-20. PMID: 15096953

 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 Jan;74(1):93-105. PMID: 14681828

 Purandare SM, Ware SM, Kwan KM, Gebbia M, Bassi MT, Deng JM, Vogel H, Behringer RR, Belmont JW, Casey B. A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development. 2002 May;129(9):2293-302. PMID: 11959836

 Casey B. Genetics of human situs abnormalities. Am J Med Genet. 2001 Jul 15;101(4):356-8. PMID: 11471159

 Schneider H, Brueckner M. Of mice and men: dissecting the genetic pathway that controls left-right asymmetry in mice and humans. Am J Med Genet. 2000 Winter;97(4):258-70. PMID: 11376437

 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 Sep;8(9):704-8. PMID: 10980576

 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 Nov;17(3):305-8. PMID: 9354794