Ontology highlight
ABSTRACT:
SUBMITTER: Tan HL
PROVIDER: S-EPMC3492913 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Tan Huay L HL Glen Elise E Töpf Ana A Hall Darroch D O'Sullivan John J JJ Sneddon Linda L Wren Christopher C Avery Peter P Lewis Richard J RJ ten Dijke Peter P Arthur Helen M HM Goodship Judith A JA Keavney Bernard D BD
Human mutation 20120214 4
Congenital cardiovascular malformation (CVM) exhibits familial predisposition, but most of the specific genetic factors involved are unknown. Postulating that rare variants in genes in critical cardiac developmental pathways predispose to CVM, we systematically surveyed three genes of the bone morphogenetic protein (BMP) signaling pathway for novel variants. Exonic, splice site, and untranslated regions of BMPR1A, BMPR2, and SMAD6 genes were sequenced in 90 unrelated sporadic cases of CVM. One n ...[more]