Kunming Medical University, Kunming, China.
Affiliated Hospital of Yunnan University (The Second People's Hospital of Yunnan Province), Kunming, China.
BMC Med Genomics. 2022 Sep 17;15(1):197. doi: 10.1186/s12920-022-01356-z.
Leber's congenital amaurosis (LCA) is a severe hereditary retinopathy disease that is characterized by early and severe reduction of vision, nystagmus, and sluggish or absent pupillary responses. To date, the pathogenesis of LCA remains unclear, and the majority of cases are caused by autosomal recessive inheritance. In this study, we explored the variant in the Crumbs homologue 1 (CRB1) gene in a Chinese family with LCA.
We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a Chinese family with LCA. A pathogenic variant was identified by capturing (the panel in NGS) and Sanger sequencing validation.
A nonsense variant (c.1499C>G) in the 6th exon of CRB1 gene in a Chinese family with LCA was identified, which predicted a change in the protein p. S500*, may lead to loss of gene function. We summarized the 76 variants reported thus far in CRB1 that caused LCA8.
This study reported a novel variant c.1499C>G (p. S500*) of the CRB1 gene occurred in a Chinese family with LCA, thus expanding the spectrum of CRB1 variants causing LCA.
Leber 先天性黑矇（LCA）是一种严重的遗传性视网膜疾病，其特征为视力早且严重下降、眼球震颤、瞳孔反应迟钝或缺失。迄今为止，LCA 的发病机制仍不清楚，大多数病例是由常染色体隐性遗传引起的。本研究探讨了一个 LCA 中国家系中 Crumb 同源物 1（CRB1）基因的变异。
对一个 LCA 的中国家系成员进行全面的眼科检查，并采集 5ml 血样。通过捕获（NGS 中的 panel）和 Sanger 测序验证来鉴定致病性变异。
在一个 LCA 的中国家系中鉴定出 CRB1 基因第 6 外显子的无义变异（c.1499C>G），该变异预测蛋白 p. S500*的改变，可能导致基因功能丧失。我们总结了迄今报道的导致 LCA8 的 CRB1 中 76 个变异。
本研究报道了一个 LCA 的中国家系中 CRB1 基因的新型变异 c.1499C>G（p. S500*），从而扩展了导致 LCA 的 CRB1 变异谱。
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