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The mutation spectrum in familial vs sporadic congenital cataract based on next-generation sequencing

BMC Ophthalmology Sep 11, 2020

Fan F, Luo Y, Wu J, et al. - Because congenital cataract (CC) is a major cause of lifelong visual loss, and due to marked genetic heterogeneity, its genetic diagnosis is challenging, researchers reported the genetic findings in sporadic and familial CC patients. Patients (n = 53) who were clinically diagnosed with CC and their parents have been selected. Mutations have been identified through panel-based next-generation DNA sequencing (NGS) that targets 792 genes that are often involved in common inherited eye diseases. The authors identified variants in 10/37 cases (27.02%) of sporadic CC and 14/16 cases (87.5%) of familial CC, which showed a significant difference. Crystallins and cytoskeletal genes were the most frequent variants in the cohort, followed by proteins associated with X-linked syndromic conditions and transcriptional factors. Such outcomes lead to expanding the mutation spectrum and frequency of genes responsible for CC. Targeted NGS in CC provided significant diagnostic information and made genetic counselling more accurate. This investigation reports the various mutation gene distributions in familial and sporadic CC cases.

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