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Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis.
Phillips HM,
Renforth GL,
Spalluto C,
Hearn T,
Curtis AR,
Craven L,
Havarani B,
Clement-Jones M,
English C,
Stumper O,
Salmon T,
Hutchinson S,
Jackson MS,
Wilson DI.
Institute of Human Genetics, University of Newcastle Upon Tyne, NE1 382, UK.
Hypoplastic left heart is a severe human congenital heart defect characterized by left ventricular hypoplasiawith aortic and mitral valve atresia. A genetic etiology is indicated by an association of the hypoplastic left heart phenotype with terminal 11q deletions that span approximately 20 Mb (distal to FRA11B in 11q23). Here we define the breakpoints in four patients with heart defects in association with distal 11q monosomy and refine the critical region to an approximately 9-Mb region distal to D11S1351. Within this critical region we have identified JAM3, a member of the junction adhesion molecule family, as a strong candidate gene for the cardiac phenotype on the basis that it is expressed during human cardiogenesis in the structures principally affected in hypoplastic left heart.
PMID: 11944976 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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ReviewJacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P.
Orphanet J Rare Dis. 2009 Mar 7; 4:9. Epub 2009 Mar 7.
[Orphanet J Rare Dis. 2009]
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Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.
Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, et al.
Mol Cytogenet. 2008 Nov 11; 1:23. Epub 2008 Nov 11.
[Mol Cytogenet. 2008]
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Identification of adipocyte adhesion molecule (ACAM), a novel CTX gene family, implicated in adipocyte maturation and development of obesity.
Eguchi J, Wada J, Hida K, Zhang H, Matsuoka T, Baba M, Hashimoto I, Shikata K, Ogawa N, Makino H.
Biochem J. 2005 Apr 15; 387(Pt 2):343-53.
[Biochem J. 2005]