Genetics Unit, Saint Joseph University, Beirut, Lebanon.
Department of Pediatrics, Saint George Hospital, Beirut, Lebanon.
Ophthalmic Genet. 2021 Dec;42(6):744-746. doi: 10.1080/13816810.2021.1955277. Epub 2021 Jul 20.
Cataract is a major condition characterized by ocular lens opacification, resulting from alteration in the lens architecture, lens proteins or both. It is responsible for about one-third of infants' blindness worldwide. Variants in the gene have been associated with autosomal recessive infantile cataract.
We conducted whole exome sequencing (WES) in a nine months old male patient who was referred for genetic investigation because of infantile cataract. WES analysis revealed the presence of a homozygous pathogenic variant (c.2365C>T) in exon 8 of the gene.
This is the first report on a Lebanese infant with infantile cataract and cortical atrophy which was not previously reported, resulting from a novel homozygous variant; thus expanding the clinical phenotypic spectrum of involvement.
白内障是一种主要的眼部晶状体混浊病症，其发病原因是晶状体结构、晶状体蛋白发生改变，或者两者兼而有之。白内障导致全世界约三分之一的婴儿失明。 基因的变异与常染色体隐性遗传的婴儿白内障有关。
我们对一名 9 个月大的男性患者进行了全外显子组测序（WES），该患者因婴儿白内障而接受遗传检查。WES 分析显示， 基因第 8 外显子存在纯合致病性变异（c.2365C>T）。
这是首例黎巴嫩婴儿白内障伴皮质萎缩的报道，该病例以前并未报道过，是由一种新型纯合 变异引起的，从而扩展了 基因参与的临床表型谱。
