机构：[1]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing Ophthalmol & Visual Sci Key Lab, Beijing 100730, Peoples R 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]Natl Res Inst Family Planning, Beijing, Peoples R China[3]Peking Union Med Coll, Beijing 100021, Peoples R China[4]World Hlth Org Collaborating Ctr Res Human Reprod, Beijing, Peoples R China
出处：
ISSN：
摘要：
Purpose: To identify the genetic defect in a five-generation Chinese family with congenital Y-suture cataracts. Methods: 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. Results: 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. Conclusions: 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.
基金：
National Science &
Technology Pillar Program of China (No.2008BAH24B05),
the National Infrastructure Program of Chinese Genetic
Resources (2006DKA21300), and the National Natural
Science Foundation of China (30471864).
第一作者机构：[1]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing Ophthalmol & Visual Sci Key Lab, Beijing 100730, Peoples R China
通讯作者：
通讯机构：[1]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing Ophthalmol & Visual Sci Key Lab, Beijing 100730, Peoples R China[2]Natl Res Inst Family Planning, Beijing, Peoples R China[3]Peking Union Med Coll, Beijing 100021, Peoples R China[4]World Hlth Org Collaborating Ctr Res Human Reprod, Beijing, Peoples R China[*1]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing Ophthalmol & Visual Sci Key Lab, 1 Dong Jiao Min Xiang, Beijing 100730, Peoples R 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(225-26):2065-2071.
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,(225-26)
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..225-26(2011):2065-2071
