Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome  

作　　者：Na Miao Yao Zhang Jin-Ying Liao Lin Zhou Ji-Cai He Rong-Qin Yang Xu-Yang Liu Li Tang 

机构地区：[1]Department of Ophthalmology,West China Hospital of Sichuan University,Chengdu 610041,Sichuan Province,China [2]Department of Ophthalmology,First People’s Hospital of Liangshan Yi Autonomous Prefecture,Xichang 615306,Sichuan Province,China [3]Xiamen Eye Center,Xiamen University,Xiamen 361011,Fujian Province,China [4]Department of Ophthalmology,Shenzhen People’s Hospital,the 2nd Clinical Medical College,Jinan University,Shenzhen 518040,Guangdong Province,China

出　　处：《International Journal of Ophthalmology(English edition)》2023年第5期694-699,共6页国际眼科杂志（英文版）

基　　金：Supported by The Cadre Health Research Program of the Sichuan Province (No.2023-119);Sichuan Science and Technology Program (No.2021YFS0213)。

摘　　要：AIM: To explore the phenotype and genotype of WeillMarchesani syndrome(WMS) in a Chinese family and review related literature.METHODS: Three WMS patients and other unaffected individuals in this family with a history of consanguineous marriage were included in this study. Medical history, comprehensive ophthalmic examinations, and systemic evaluation, as well as whole exome and Sanger sequencing of specific genomic regions, were performed. RESULTS: The three affected siblings presented with short stature, brachydactyly and ocular disorders, including very shallow anterior chamber, high myopia, microspherophakia lens subluxation with stretched zonules and glaucoma. Genetic analysis verified a homozygous missense mutation(c.2983C>T: p. Arg995Trp) in ADAMTS17,which was correlated with the diseases in this family, indicating an autosomal recessive inherited manner of WMS. This review aims to summarize the mutation sites of WMS genes, so as to prevent the disease and better guide clinical diagnosis and treatment.CONCLUSION: A novel homozygous missense variant of ADAMTS17 is identified in a WMS family with a history of consanguineous marriage. Our study expands the range of mutations associated with WMS and deepens our understanding of pathology in disease associated with ADAMTS17 variants.

关 键 词：Weill-Marchesani syndrome ADAMTS17 missense variation molecular genetics 

分 类 号：R593.2[医药卫生—内科学] R771.3[医药卫生—临床医学]