Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1
A Fernandez‐L, F Sanz‐Rodriguez… - Human …, 2006 - Wiley Online Library
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant and age‐dependent
vascular disorder originated by mutations in Endoglin (ENG) or activin receptor‐like kinase‐
1 (ALK1, ACVRL1) genes. The first large series HHT analysis in Spanish population has
identified mutations in 17 unrelated families. Ten different mutations in ALK1 and six in ENG
genes were found. Six unrelated families had a mutation in ENG gene, four representing
new mutations, p. Y258fs, pV323fs, p. F279fs (c. 834_837del CTTC), and p. F279fsdupC …
vascular disorder originated by mutations in Endoglin (ENG) or activin receptor‐like kinase‐
1 (ALK1, ACVRL1) genes. The first large series HHT analysis in Spanish population has
identified mutations in 17 unrelated families. Ten different mutations in ALK1 and six in ENG
genes were found. Six unrelated families had a mutation in ENG gene, four representing
new mutations, p. Y258fs, pV323fs, p. F279fs (c. 834_837del CTTC), and p. F279fsdupC …
[HTML][HTML] Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia
A Fontalba, A Fernandez-L, E García-Alegria… - BMC Medical …, 2008 - Springer
Abstract Background Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal
dominant and age-dependent vascular disorder characterised mainly by mutations in the
Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. Methods Here, we
have identified 22 ALK1 mutations and 15 ENG mutations, many of which had not previously
been reported, in independent Spanish families afflicted with HHT. Results We identified
mutations in thirty-seven unrelated families. A detailed analysis of clinical symptoms was …
dominant and age-dependent vascular disorder characterised mainly by mutations in the
Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. Methods Here, we
have identified 22 ALK1 mutations and 15 ENG mutations, many of which had not previously
been reported, in independent Spanish families afflicted with HHT. Results We identified
mutations in thirty-seven unrelated families. A detailed analysis of clinical symptoms was …