Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8644522 | Gene | 2018 | 6 Pages |
Abstract
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 γS-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.
Keywords
RIPAγS-Crystallinpolymorphism phenotyping v2CADDpolyphen2SDSECLDAPIRFLPTBSPVDFNCBISIFTSTR4′,6-diamidino-2-phenylindoleCongenital cataractProtein Variation Effect Analyzerenhanced chemiluminescenceTris buffered salineCombined Annotation Dependent DepletionWhole exome sequencingShort tandem repeatLOD یا Limit of detectionpolyvinylidene difluoridesodium dodecyl sulfateradioimmunoprecipitation assaylogarithm of the oddsSorting Intolerant From TolerantNational Center for Biotechnology Informationmutant typewild typePROVEANrestriction fragment length polymorphism
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Authors
Tianxiao Zhang, Lulu Yan, Yunji Leng, Chen Chen, Liwei Ma, Qian Wang, Jinsong Zhang, Lihua Cao,