@article{Miao2023, 
author = {Na Miao and Yao Zhang and Jin-Ying Liao and Lin Zhou and Ji-Cai He and Rong-Qin Yang and Xu-Yang Liu and Li Tang},
title = {Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome},
year = {2023},
journal = {International Journal of Ophthalmology},
volume = {16},
number = {5},
pages = {694-699},
keywords = {Weill-Marchesani syndrome, ADAMTS17, missense variation, molecular genetics},
url = {https://www.sciopen.com/article/10.18240/ijo.2023.05.04},
doi = {10.18240/ijo.2023.05.04},
abstract = {AIMTo explore the phenotype and genotype of Weill-Marchesani syndrome (WMS) in a Chinese family and review related literature.METHODSThree 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.RESULTSThe 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.CONCLUSIONA 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.}
}