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Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract

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资源类型：
WOS体系：
Pubmed体系：

收录情况： ◇ SCIE

作者：
Wang, Kai Jie[1] * ; Zha, Xu[2] ; Chen, Dou Dou[1] ; Zhu, Si Quan[1,*1] ;
机构： [1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University,Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China [2]Department of Ophthalmology, the Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China
出处：
DOI： 10.1080/02713683.2017.1406527
ISSN：

关键词： Congenital cataract hot spot mutation CRYBA1/A3 haplotype

摘要：
Purpose: To identify the CRYBA1/A3 mutation spectrum and analyze the genotype-phenotype correlations in Chinese families with congenital cataract. Methods: Family history and clinical data of 47 unrelated families with autosomal dominant congenital cataract (ADCC) were recorded. CRYBA1/A3 gene sequencing was applied to identify the causative mutation. Haplotypes were constructed using closely linked microsatellite markers and intragenic single-nucleotide polymorphisms (SNPs) to compare the affected haplotype in three families. Results: Nuclear cataract was the most common type of ADCC in Chinese families, accounting for 42.6% (20/47). A recurrent CRYBA1/A3 deletion mutation (Delta G91) was identified in three families (6.4%) with nonprogressive nuclear congenital cataract. Different haplotypes segregated with the mutation in each family. Conclusions: A recurrent Delta G91CRYBA1/A3 mutation occurs independently in 6.4% of the Chinese families with autosomal dominant nuclear cataracts and most likely represents a mutational hot spot, which underscores the relations between nonprogressive nuclear cataract and CRYBA1/A3.

基金：
National Natural Science Foundation of China (51573101), Beijing Nova Program (Z151100000315096), Beijing Natural Science Foundation (7172056), and the priming scientific research foundation for the senior researchers in Beijing Tongren Hospital, Capital Medical University (2016-YJJ-GGL-010).
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2017]版：
大类 | 4 区 医学
小类 | 3 区 眼科学
最新[2025]版：
大类 | 4 区 医学
小类 | 4 区 眼科学
JCR分区：
出版当年[2016]版：
Q2 OPHTHALMOLOGY
最新[2023]版：
Q3 OPHTHALMOLOGY

影响因子： 最新[2023版] 最新五年平均 出版当年[2016版] 出版当年五年平均 出版前一年[2015版] 出版后一年[2017版]

第一作者：
第一作者机构： [1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University,Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China
通讯作者：
通讯机构： [1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University,Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China [*1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 1 Dong Jiao Min Xiang, Beijng 100730, China.
推荐引用方式(GB/T 7714)：
Wang Kai Jie,Zha Xu,Chen Dou Dou,et al.Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract[J].CURRENT EYE RESEARCH.2018,43(3):304-307.doi:10.1080/02713683.2017.1406527.
APA：
Wang, Kai Jie,Zha, Xu,Chen, Dou Dou&Zhu, Si Quan.(2018).Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract.CURRENT EYE RESEARCH,43,(3)
MLA：
Wang, Kai Jie,et al."Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract".CURRENT EYE RESEARCH 43..3(2018):304-307

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