[Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia].
OBJECTIVE
To identify the activin A receptor type II-like 1 gene (ACVRL1) mutations in a Chinese family with hereditary hemorrhagic telangiectasia (HHT2).


METHODS
The exons 3, 7 and 8 of ACVRL1 gene of the proband and her five family members were amplified by polymerase chain reaction (PCR), and the PCR products were sequenced.


RESULTS
The proband had obvious telangiectasis of gastric mucosa, and small arteriovenous fistula in the right kidney. All the patients in the HHT2 family had iterative epistaxis or bleeding in other sites, and had telangiectasis of nasal mucosa, tunica mucosa oris and finger tips. ACVRL1 gene analysis confirmed that there is frameshift mutation caused by deletion of G145 in exon 3 in the 4 patients, but the mutation is absent in 2 members without HHT2.


CONCLUSIONS
The HHT2 family is caused by a 145delG mutation of ACVRL1 gene, resulting in frameshift and a new stop codon at codon 53.
Fujian Provincial Hospital, Fujian Medical University, Fuzhou, Fujian, 350001 People's Republic of China.
Jie-wei
JW
Luo
Hui
H
Chen
Liu-qing
LQ
Yang
Ai-lan
AL
Zhu
Yan-an
YA
Wu
Jian-wei
JW
Li
D030301:Activin Receptors, Type II / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics* / Q000473:pathology
C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II