Abstract：
Congenital cataract is one of the leading causes of vision loss in children, and a large proportion of cases are related to genetics. In a Chinese family, we reported a new missense mutation in CRYBA2 (c.223T>C: p.Tyr75His), which can cause autosomal dominant congenital bilateral cataract. We collected blood samples from family members (mother and two sons) and extracted DNA. Through whole-exome sequencing, we discovered a novel unreported mutation. According to relevant ACMG guidelines, this mutation was determined to be a variant of unknown clinical significance. This article further expands the site information on the CRYBA2 mutations.
摘要：
先天性白内障是儿童视力下降的主要原因之一，很大一部分病例与遗传学有关.在一个中国家庭，我们报道了一个新的CRYBA2错义突变（c.223T>C：p.Tyr75His），可引起常染色体显性先天性双侧白内障。我们从家庭成员（母亲和两个儿子）收集血液样本并提取DNA。通过全外显子组测序,我们发现了一个新的未报告的突变.根据ACMG相关指南，该突变被确定为具有未知临床意义的变异.本文进一步扩展了关于CRYBA2突变的位点信息。
