Department of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, Spain.
Department of Molecular Ophthalmology, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain.
Genes (Basel). 2021 Apr 16;12(4):580. doi: 10.3390/genes12040580.
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 and five in ). Mutations in and were each found in three families. Other mutations detected affected and . Variants classified as of unknown significance were found in 5 families (9.8%), affecting and . Mutations lead to different cataract phenotypes within the same family.
我们的目的是通过在我们中心实施下一代测序 (NGS) 来鉴定导致非综合征性先天性白内障的突变。从先证者和愿意的家庭成员中采集外周血样本，并从白细胞中提取基因组 DNA。通过分析包括 39 个已知先天性白内障疾病基因的面板 (OFTv2.1) 来分析 DNA。共招募了 62 名先证者和 51 个家庭；在 32 名患者和 25 个家庭中发现了致病性或可能致病性变异；在 16 个家庭（64%）中，这些是新生突变。突变检测率为 49%。几乎所有报道的突变都是常染色体显性遗传。30%的先证者中发现了晶体蛋白基因突变。在 7 个家庭（2 个在 和 5 个在 ）中检测到膜蛋白突变。在 3 个家庭中发现了 和 突变。其他检测到的突变影响了 和 。在 5 个家庭（9.8%）中发现了分类为意义不明的变异，影响了 和 。突变导致了同一家庭中不同的白内障表型。
