Hereditary hemorrhagic telangiectasia complicated by aortic sinus aneurysm caused by a pathogenic mutation in the ACVRL1 gene: a family survey
10.35541/cjd.20210566
- VernacularTitle:ACVRL1基因突变致合并主动脉窦瘤的遗传性出血性毛细血管扩张症1家系调查
- Author:
Na YAN
1
;
Yan LIU
;
Huajun LI
;
Yang LI
;
Xuanfeng TAN
;
Yi YANG
;
Liang JIN
Author Information
1. 汉中市中心医院皮肤科，汉中 723000
- Keywords:
Telangiectasia, hereditary hemorrhagic;
Sinus aneurysm of aorta;
DNA mutation analysis;
ACVRL1 gene
- From:
Chinese Journal of Dermatology
2022;55(8):716-720
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate clinical and genetic characteristics of a family with hereditary hemorrhagic telangiectasia complicated by aortic sinus aneurysm, and to analyze causative genes.Methods:Clinical data and peripheral blood samples were collected from the proband and her relatives, and genomic DNA was extracted. Causative genes were screened by whole-exome sequencing, and then verified by Sanger sequencing.Results:A heterozygous mutation c.137G>A was identified at position 137 in exon 3 of the ACVRL1 gene in the proband, her daughter, grandson and granddaughter, which led to the substitution of cysteine by tyrosine at amino acid position 46 (p.C46Y) . The mutation was not found in any of the other 5 family members without clinical symptoms.Conclusion:A causative mutation c.137G>A (p.C46Y) in the ACVRL1 gene was identified in the family with hereditary hemorrhagic telangiectasia type 2 complicated by aortic sinus aneurysm, which had not been previously reported in Asian populations.
