机构：[1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China首都医科大学附属北京同仁医院首都医科大学附属同仁医院[2]National Research Institute for Family Planning, Beijing, China国家卫生健康委科学技术研究所[3]Peking Union Medical College, Beijing,China[4]World Health Organization Collaborating Center for Research in Human Reproduction, Beijing, China
出处：
摘要：
To identify the genetic defect in a five-generation Chinese family with congenital Y-suture cataracts.A five-generation Chinese family with inherited Y-suture cataract phenotype was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation.The congenital cataract phenotype of the family was identified as Y-suture cataract type by using slit-lamp photography. Direct sequencing revealed a G→T splice site mutation in crystallin, beta A1 (CRYBA1/A3).This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members or 100 unrelated controls.Our study identified a novel type of a splice site mutation in CRYBA1/A3 .The mutation was responsible for the congenital Y-suture cataracts in the family. This is the first report relating a G→T mutation of CRYBA1/A3 to congenital Y-suture cataract.
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2010]版：
大类|3 区生物
小类|3 区眼科学4 区生化与分子生物学
最新[2025]版：
大类|4 区医学
小类|4 区生化与分子生物学4 区眼科学
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：[2]National Research Institute for Family Planning, Beijing, China[3]Peking Union Medical College, Beijing,China[4]World Health Organization Collaborating Center for Research in Human Reproduction, Beijing, China
推荐引用方式(GB/T 7714)：
Yang Zhenfei,Li Qian,Ma Zicheng,et al.A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.[J].Molecular Vision.2011,17:2065-71.
APA：
Yang Zhenfei,Li Qian,Ma Zicheng,Guo Yuanyuan,Zhu Siquan&Ma Xu.(2011).A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family..Molecular Vision,17,
MLA：
Yang Zhenfei,et al."A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.".Molecular Vision 17.(2011):2065-71
