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Novel homozygous ADAMTS17 missense variant in weill-marchesani syndrome

International Journal of Ophthalmology(English edition) 2023年第5期16卷 694-699页

作者： Na Miao Yao Zhang Jin-Ying Liao Lin Zhou Ji-Cai He Rong-Qin Yang Xu-Yang Liu Li Tang Department of Ophthalmology West China Hospital of Sichuan UniversityChengdu 610041Sichuan ProvinceChina Department of Ophthalmology First People’s Hospital of Liangshan Yi Autonomous PrefectureXichang 615306Sichuan ProvinceChina Xiamen Eye Center Xiamen UniversityXiamen 361011Fujian ProvinceChina Department of Ophthalmology Shenzhen People’s Hospitalthe 2nd Clinical Medical CollegeJinan UniversityShenzhen 518040Guangdong ProvinceChina

AIM: To explore the phenotype and genotype of weillmarchesani syndrome(WMS) in a Chinese family and review related ***: 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 ***: 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

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A Case of Refractory Childhood Glaucoma Secondary to weill-marchesani syndrome:Management with Combined CO_(2) Laser-Assisted Sclerectomy Surgery and Trabeculectomy

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Chinese Medical Sciences Journal 2022年第2期37卷 159-163页

作者： Yang Zhang Ailing Bian Anyi Liang Fei Mo Gangwei Cheng Department of Ophthalmology Peking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China

A 2-year-old girl was diagnosed as weill-marchesani syndrome with typical systemic features of short stature,short and stubby hands and feet,language disorders and mental *** developed bilateral angle closure glaucoma,ectopia lentis and suffered visual loss from the ocular features of weill-marchesani *** child was successfully treated by combined CO_(2) laser-assisted sclerectomy surgery and trabeculectomy.

关键词： pediatric glaucoma refractory glaucoma surgery weill-marchesani syndrome CO_(2)laser

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