英文论文


文献类型
Article
题名
Identification of novel heterozygous missense variant in the COL11A1 causing fetal craniofacial anomalies
作者
Dong, Zhe; Ma, Qiang; Zheng, Chunyan; Huang, Yanxia; Dong, Xingyue; Yang, Kai; Tan, Ya; Hu, Huaying; Ren, Zhuo; Yan, Yousheng; Zhang, Dongliang; Lin, Li
作者单位
[Dong, Zhe; Ma, Qiang; Yang, Kai; Tan, Ya; Ren, Zhuo; Yan, Yousheng; Lin, Li] Peking Univ Int Hosp, Dept Obstet & Gynecol, 1 Shengmingyuan Rd, Beijing 102206, Peoples R China. [Zheng, Chunyan; Huang, Yanxia; Dong, Xingyue; Zhang, Dongliang] Capital Med Univ, Dept Orthodont, Sch Stomatol, 11 XilaHutong, Beijing 100050, Peoples R China. [Hu, Huaying] Xiamen Univ, Sch Med, Xiamen, Peoples R China. [Hu, Huaying] Beijing Jiaen Hosp, Jiaen Genet Lab, Beijing, Peoples R China.
通讯作者地址
Peking Univ Int Hosp, Dept Obstet & Gynecol, 1 Shengmingyuan Rd, Beijing 102206, Peoples R China.; Capital Med Univ, Dept Orthodont, Sch Stomatol, 11 XilaHutong, Beijing 100050, Peoples R China.
Email
zhangdongliang@mail.ccmu.edu.cn; linli488@aliyun.com
ResearchID
ORCID
期刊名称
ALL LIFE
出版社
TAYLOR & FRANCIS LTD
ISSN
2689-5293
出版信息
2022-12-31, 15 (1):240-246.
JCR
影响因子
ISBN
基金
National Key Research and Development Program of China [2018YFC100 2201]
会议名称
会议地点
会议开始日期
会议结束日期
关键词
Marshall syndrome; Stickler syndrome type II; exome sequencing
摘要
Type XI collagen plays a fundamental role in fibrillogenesis, through formation of cartilage collagen fibrils and contributions to the cohesive properties of cartilage. The alpha-1 chain of type XI collagen is encoded by the COL11A1. Pathogenic variants of COL11A1, have been identified in several genetic conditions, including Marshall syndrome (MRSHS), Stickler syndrome type II, and Fibrochondrogenesis 1. We investigated genetic etiology of an induced labor fetus displaying micrognathia, cleft palate, hypertelorism and polydactyly. Whole-exome sequencing was performed in DNA samples of the proband and parents. Sanger sequencing was then performed as a confirmatory experiment and in silico evaluation was conducted on suspected variant. A novel de novo missense variant in exon62 of the COL11A1, NM_001854.3 COL11A1: c.4583G>T (p.Gly1528Val), was identified and verified by Sanger sequencing. In silico analysis demonstrated that the amino-acid p.Gly1528 was evolutionarily conservative, and that p.Gly1528Val was potentially damaging. This data provided reliable evidence for the subsequent genetic counseling to the affected family.
一级学科
Multidisciplinary Sciences
WOS入藏号
WOS:000756128000001
EI收录号
DOI
10.1080/26895293.2022.2039784
ESI
收录于
SCIE

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