A novel missense mutation of CRYGS underlies congenital cataract in a Chinese family.
A novel missense mutation of CRYGS underlies congenital cataract in a Chinese family.
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DOI：
10.1016/j.gene.2018.06.100
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发表时间：
2018-10
期刊：
影响因子：
3.5
通讯作者：
Tianxiao Zhang;Lulu Yan;Yunji Leng;Chen Chen-Chen;Liwei Ma;Qian Wang;Jinsong Zhang;Lihua Cao
中科院分区：
文献类型：
--
作者：
Tianxiao Zhang;Lulu Yan;Yunji Leng;Chen Chen-Chen;Liwei Ma;Qian Wang;Jinsong Zhang;Lihua Cao
先天性白内障是一种临床和遗传异质性疾病。在这项研究中，我们通过全外显子组测序检查了一个患有常染色体显性核先天性白内障的五代中国家庭。在该家族中发现了 CRYGS 中一个新的杂合错义突变 c.199T>A, p.(Tyr67Asn)。 p.(Tyr67Asn)取代预计会降低局部疏水性并影响γS-晶状体蛋白的三维结构，并导致部分突变蛋白从细胞质易位到细胞膜。我们的观察扩大了CRYGS的突变谱，为先天性白内障的遗传基础和分子机制提供了进一步的证据。
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) inCRYGSwas identified in this family. The p.(Tyr67Asn) substitution was predicted to decrease the local hydrophobicity and affect the three-dimensional structure of γS-crystallin, and resulted in a portion of mutant protein translocation from the cytoplasm to cell membrane. Our observations expand the mutation spectrum ofCRYGSand provide further evidence for the genetic basis and molecular mechanism of congenital cataract.