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

doi:10.35541/cjd.20210566

Chinese Journal of Dermatology ›› 2022, Vol. 55 ›› Issue (8): 716-720.doi: 10.35541/cjd.20210566

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Hereditary hemorrhagic telangiectasia complicated by aortic sinus aneurysm caused by a pathogenic mutation in the ACVRL1 gene： a family survey

Yan Na¹, Liu Yan¹, Li Huajun², Li Yang³, Tan Xuanfeng⁴, Yang Yi⁵, Jin Liang⁶

1Department of Dermatology, Hanzhong Central Hospital, Hanzhong 723000, Shaanxi, China; 2Department of Cardiac Surgery, Hanzhong Central Hospital, Hanzhong 723000, Shaanxi, China; 3Department of Ultrasound Diagnosis, Hanzhong Central Hospital, Hanzhong 723000, Shaanxi, China; 4Department of Dermatology, The Second Affiliated Hospital of Xi′an Jiaotong University, Xi′an 710004, China; 5Department of Dermatology, The First Medical Center of Chinese PLA General Hospital, Beijing 110853, China; 6Department of Dermatology, Air Force Medical Center, Beijing 110142, China

Received:2021-08-04 Revised:2022-01-10 Online:2022-08-15 Published:2022-08-02
Contact: Jin Liang E-mail:dermjin@aliyun.com
Supported by:
"Young Eagle Program of Talent Project" of Air Force Military Medical University（KT2021HQ021）

Abstract

Abstract: 【Abstract】 Objective To investigate clinical and genetic characteristics of a family with hereditary hemorrhagic telangiectasia complicated by aortic sinus aneurysm, and to detect and 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.

Key words: Telangiectasia, hereditary hemorrhagic, Sinus aneurysm of aorta, DNA mutation analysis, ACVRL1 gene

Yan Na, Liu Yan, Li Huajun, Li Yang, Tan Xuanfeng, Yang Yi, Jin Liang. Hereditary hemorrhagic telangiectasia complicated by aortic sinus aneurysm caused by a pathogenic mutation in the ACVRL1 gene： a family survey [J]. Chinese Journal of Dermatology, 2022, 55(8): 716-720.doi:10.35541/cjd.20210566

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Hereditary hemorrhagic telangiectasia complicated by aortic sinus aneurysm caused by a pathogenic mutation in the ACVRL1 gene： a family survey

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