Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB

Citation
R. Kosaki et al., Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB, AM J MED G, 82(1), 1999, pp. 70-76
Citations number
27
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
0148-7299 → ACNP
Volume
82
Issue
1
Year of publication
1999
Pages
70 - 76
Database
ISI
SICI code
0148-7299(19990101)82:1<70:LAMAWM>2.0.ZU;2-0
Abstract
Targeted disruption of the mouse activin receptor type IIB gene (Acvr2b) re sults in abnormal left-right (LR) axis development among Acvr2b(-/-) homozy gotes [Oh and Li, 1997: Genes Dev 11:1812-1826]. The resulting malformation s include atrial and ventricular septal defects, right-sided morphology of the left atrium and left lung, and spleen hypoplasia. Based on these result s, we hypothesized that mutations in the type IIB activin receptor gene are associated with some cases of LR axis malformations in humans. We report h ere characterization of the ACVR2B genomic structure, analysis of ACVR2B sp lice variants, and screening for ACVR2B mutations among 112 sporadic and 14 familial cases of LR axis malformations. Two missense substitutions have b een identified, one of which appears in two unrelated individuals. Neither of these nucleotide changes has been found in 200 control chromosomes, me c onclude that ACVR2B mutations are present only rarely among human LR axis m alformation cases. (C) 1999 Wiley-Liss, Inc.