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Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.

Human mutation - 1 Dec 2022

Chen Ze-Xu, Jia Wan-Nan, Sun Yang, Chen Tian-Hui, Zhao Zhen-Nan, Lan Li-Na, Liu Yan, Song Ling-Hao, Jiang Yong-Xiang

Abstract excerpt

ADAMTSL4 variants are one of the common causes of congenital ectopia lentis (EL), reported ocular comorbidities of which include iris anomalies, cataract, and glaucoma. However, a genotype-phenotype correlation has not been established. Potentially pathogenic ADAMTSL4 variants were screened from a Chinese cohort of congenital EL using panel-based next-generation sequencing followed by multiple bioinformatics...

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PMID: 36208099
DOI: 10.1002/humu.24483

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