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

中华皮肤科杂志 ›› 2022, Vol. 55 ›› Issue (8): 716-720.doi: 10.35541/cjd.20210566

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

闫娜¹ 刘燕¹ 李华军² 李洋³ 谭宣丰⁴ 杨怡⁵ 晋亮⁶

¹汉中市中心医院皮肤科，汉中 723000；²汉中市中心医院心脏外科，汉中 723000；³汉中市中心医院超声诊断科，汉中 723000；⁴西安交通大学第二附属医院皮肤科，西安 710004；⁵解放军总医院第一医学中心皮肤科，北京 110853；⁶空军特色医学中心皮肤科，北京 110142

收稿日期:2021-08-04 修回日期:2022-01-10 发布日期:2022-08-02
通讯作者: 晋亮 E-mail:dermjin@aliyun.com
基金资助:
空军军医大学“人才工程雏鹰计划”项目（KT2021HQ021）

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 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）

摘要/Abstract

摘要： 【摘要】目的研究1个家族性合并主动脉窦瘤的遗传性出血性毛细血管扩张症家系的临床及遗传学特点，检测分析其致病基因。方法收集先证者及其亲属的临床资料和外周血，提取基因DNA，全外显子组测序筛查致病基因，随后采用Sanger测序验证。结果先证者及其女儿、外孙、外孙女ACVRL1基因在3号外显子137号核苷酸由鸟嘌呤G变为腺嘌呤A（c.137G>A），导致第46号氨基酸由半胱氨酸变为酪氨酸（p.C46Y），家系中另5例无临床症状者未携带此突变基因。结论该家系中合并主动脉窦瘤的遗传性出血性毛细血管扩张症Ⅱ型患者存在 ACVRL1基因c.137G>A（p.C46Y）致病突变，亚洲人群未见此突变报道。

关键词: 毛细血管扩张, 遗传性出血性, 主动脉窦瘤, DNA突变分析, ACVRL1基因

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

闫娜刘燕李华军李洋谭宣丰杨怡晋亮. 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[J]. 中华皮肤科杂志, 2022,55(8):716-720. doi:10.35541/cjd.20210566

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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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

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

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