State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Department of Gastroenterology, Renmin Hospital of Wuhan University, Wuhan, China.
Curr Eye Res. 2020 Apr;45(4):483-489. doi: 10.1080/02713683.2019.1675176. Epub 2019 Oct 15.
: To identify the pathogenetic mutations in a four-generation Chinese family with dominant congenital cataracts and microphthalmia.: A four-generation Chinese family with dominant congenital cataracts were recruited. Genomic DNAs were collected from their peripheral blood leukocytes and subjected to whole exome sequencing. The genetic mutations were identified by bioinformatic analyses and verified by Sanger sequencing.: Whole exome sequencing revealed a c.279C>G point mutation in the gene which was further verified by Sanger sequencing. The nucleotide replacement results in a novel mutation p.S93R in a conserved residue of βB1 crystallin which is predicted to disrupt normal βB1 structure and function.: We identified a novel missense mutation p.S93R in CRYBB1 in a Chinese family with autosomal dominant congenital cataracts and microphthalmia. This serine residue is extremely conserved evolutionarily in more than 50 βγ-crystallins of many species. These data will be very helpful to further understand the structural and functional features of crystallins.
在一个四代中国显性先天性白内障和小眼球家系中鉴定其致病突变。
我们招募了一个四代中国显性先天性白内障家系。收集其外周血白细胞基因组 DNA，进行全外显子测序。通过生物信息学分析鉴定遗传突变，并通过 Sanger 测序进行验证。
全外显子测序揭示了基因中的 c.279C>G 点突变，通过 Sanger 测序进一步验证了该突变。核苷酸替换导致βB1 晶状体中保守残基的新型突变 p.S93R，预测该突变会破坏正常的βB1 结构和功能。
我们在一个常染色体显性遗传的先天性白内障和小眼球的中国家系中鉴定出 CRYBB1 的一个新的错义突变 p.S93R。该丝氨酸残基在超过 50 种多种物种的βγ-晶状体中具有极其保守的进化性。这些数据将非常有助于进一步了解晶状体的结构和功能特征。
