遗传学
外显子
生物
ACVRL1型
基因
先证者
无义突变
突变
错义突变
内含子
剪接位点突变
分子生物学
内皮糖蛋白
选择性拼接
干细胞
川地34
作者
S A Abdalla,Urszula Cymerman,Diane Rushlow,Ning Chen,Gwendolyn P. Stoeber,Edmond G. Lemire,Michelle Letarte
摘要
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder caused by mutations in Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. We performed molecular characterization in clinically affected probands of 31 HHT families and detected a total of 28 different mutations in the two genes, including four shared by more than one family. Twelve mutations were identified in the ENG gene, six of which were novel and comprised two nonsense mutations in exons 6 and 8, deletions in exons 5 and 11, and splice site mutations in exon 12 and intron 8. Eleven of sixteen mutations identified in the ALK1 gene were novel single base pair substitutions in exons 4, 7, 8, and 9. We also describe the first de novo ALK1 mutation that causes a previously unreported c.1133C>A substitution of a highly conserved residue (p.P378H). The proband and his two daughters, who also carried the familial mutation, all suffered from gastrointestinal (GI) bleeding. In addition, we report seven newly identified polymorphisms and summarize all known ones in both genes. © 2005 Wiley-Liss, Inc.
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