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

• Published in: Human mutation Vol. 43; no. 12; pp. 2141 - 2152
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Hindawi Limited 01.12.2022
• Subjects: ADAMTS Proteins - genetics; ADAMTSL4; Bioinformatics; Cataract - genetics; Cataracts; Comorbidity; corectopia; East Asian People; Ectopia; ectopia lentis; Ectopia Lentis - genetics; Ectopia Lentis - pathology; Genotype & phenotype; Genotypes; genotype–phenotype correlation; Glaucoma; Humans; Iris; Mutation; Pedigree; persistent pupillary membrane; Phenotypes; ADAMTSL4; ectopia lentis; persistent pupillary membrane; corectopia; genotype-phenotype correlation

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 C...