A novel missense mutation of CRYGS underlies congenital cataract in a Chinese family

作者：Zhang, Tianxiao; Yan, Lulu; Leng, Yunji; Chen, Chen; Ma, Liwei; Wang, Qian; Zhang, Jinsong^*; Cao, Lihua^*

来源：Gene, 2018, 675: 9-14.

DOI：10.1016/j.gene.2018.06.100

• Congenital cataract
• Whole exome sequencing
• CRYGS
• gamma S-crystallin

Congenital cataract is a clinically and genetically heterogeneous disease. In this study, we examined a five-generation Chinese family with autosomal dominant nuclear congenital cataracts by whole exome sequencing. A novel heterozygous missense mutation c.199T > A, p.(Tyr67Asn) in CRYGS was identified in this family. The p. (Tyr67Asn) substitution was predicted to decrease the local hydrophobicity and affect the three-dimensional structure of gamma S-crystallin, and resulted in a portion of mutant protein translocation from the cytoplasm to cell membrane. Our observations expand the mutation spectrum of CRYGS and provide further evidence for the genetic basis and molecular mechanism of congenital cataract.

• 出版日期2018-10-30
• 单位中国医科大学