Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome.

ABSTRACT:

Aim

To explore the phenotype and genotype of Weill-Marchesani 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, wh

SUBMITTER: Miao N 

PROVIDER: S-EPMC10172099 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature