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Abstract #108648 Published in IGR 23-4
Novel homozygous missense variant in Weill-Marchesani syndrome
Miao N; Zhang Y; Liao JY; Zhou L; He JC; Yang RQ; Liu XY; Tang LInternational Journal of Ophthalmology 2023; 16: 694-699
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 , 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 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 variants.
Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China.
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