| Summary: | Our purpose was to identify mutations responsible for non-syndromic congenital cataracts through the implementation of next-generation sequencing (NGS) in our center. A sample of peripheral blood was obtained from probands and willing family members and genomic DNA was extracted from leukocytes. DNA was analyzed implementing a panel (OFTv2.1) including 39 known congenital cataracts disease genes. 62 probands from 51 families were recruited. Pathogenic or likely pathogenic variants were identified in 32 patients and 25 families; in 16 families (64%) these were de novo mutations. The mutation detection rate was 49%. Almost all reported mutations were autosomal dominant. Mutations in crystallin genes were found in 30% of the probands. Mutations in membrane proteins were detected in seven families (two in <i>GJA3</i> and five in <i>GJA8</i>). Mutations in <i>LIM2</i> and <i>MIP</i> were each found in three families. Other mutations detected affected <i>EPHA2, PAX6, HSF4</i> and <i>PITX3</i>. Variants classified as of unknown significance were found in 5 families (9.8%), affecting <i>CRYBB3, LIM2, EPHA2, ABCB6</i> and <i>TDRD7</i>. Mutations lead to different cataract phenotypes within the same family.
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