青岛大学学报（医学版）2025，Vol.61Issue(6)：831-834,4.DOI:10.11712/jms.2096-5532.2025.61.144
COL6A1基因变异致胶原Ⅵ蛋白肌病双胞胎的临床特点及遗传学分析
Clinical features and genetic analysis of collagen Ⅵ myopathy caused by COL6A1 gene mutation in twins
摘要
Abstract
Objective To perform clinical and genetic analyses of a pair of twins with the main manifestations of motor de-velopmental delay and myasthenia.Methods A pair of twins who were admitted to our hospital in 2023 due to inability to walk since birth were enrolled as subjects.Related clinical data were collected.Whole-exome sequencing was used for genetic testing,while Sanger sequencing was used for validation of candidate mutations.Results The pediatric patients were a pair of twin girls aged 4 years,and both girls had the main clinical manifestation of motor developmental delay,with low muscle tension of extremi-ties,contracture of bilateral achilles tendons,a reduction in the muscle strength of extremities,relaxation of wrist joints,a signifi-cant difference in grip strength between the two hands,and positive Gower sign.Gene sequencing showed that both twins with si-milar symptoms carried the heterozygous mutation of c.850G＞A(p.Gly284Arg)in the COL6A1 gene,which was a de novo muta-tion,while both parents had wild-type COL6A1 gene.Based on the guidelines of the American College of Medical Genetics and Ge-nomics,this mutation was classified as a pathogenic mutation(PS1+PS2+PM1+PM2_Supporting+PP3_Strong+PS4).Con-clusion This article reports a pair of twins with collagen Ⅵ myopathy for the first time in China and performs related clinical and genetic analyses,which can help to improve the understanding of this rare disease among physicians in China.关键词
COL6A1基因/突变/双生/胶原Ⅵ型/肌疾病Key words
COL6A1/mutation/twins/collagen type Ⅵ/muscular diseases分类
医药卫生引用本文复制引用
张静丽,任蓉,苑爱云..COL6A1基因变异致胶原Ⅵ蛋白肌病双胞胎的临床特点及遗传学分析[J].青岛大学学报（医学版）,2025,61(6):831-834,4.基金项目
青岛市医药科研指导计划项目(2020-WJZD130) （2020-WJZD130）
青岛市医疗卫生优秀人才培养项目(2020.1-2022.12) （2020.1-2022.12）
北京大学人民医院研究与发展基金资助项目(RDL2022-46,RDJP2022-20) （RDL2022-46,RDJP2022-20）
