全外显子组测序鉴定出一个基因的新突变，该突变导致一个中国家系患常染色体显性遗传性先天性白内障。
Whole Exome Sequencing Identifies a Novel Mutation in the Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.
作者信息
Liu Hui, Liu Hankui, Tang Junxiang, Lin Qiongfen, Sun Yuxiu, Wang Chaohong, Yang Huanming, Khan Muhammad Riaz, Peerbux Mohamud Walid, Ahmad Sohail, Bukhari Ihtisham, Zhu Jiansheng
机构信息
Maternity and Child Health Hospital of Anhui Province, The Maternal and Child Health Clinical College, Anhui Medical University, Hefei, China.
BGI-Shenzhen, Shenzhen, China.
出版信息
Ann Clin Lab Sci. 2017 Jan;47(1):92-95.
BACKGROUND
Congenital cataract is the cloudiness of the eye's natural lens and is a primary cause of congenital vision loss. It accounts for almost 10% of childhood vision loss worldwide.
METHODS
A four generation Chinese family having seven affected individuals was recruited for the current study. Exome sequencing was performed to identify the genetic cause of congenital cataract.
RESULTS
Analysis of data identified a novel frameshift mutation, c.608delC (p.A203fs), in the gene. This mutation was only observed in the affected individuals while the unaffected members of the family as well as 100 ethnically matched normal controls did not contain this deletion.
CONCLUSION
These findings suggest that p.A203fs is the cause of cataracts in the recruited family. This information would be further helpful in the genetic diagnosis of cataract and in the genetic counseling of similar patients.
背景
先天性白内障是眼睛天然晶状体的混浊，是先天性视力丧失的主要原因。它占全球儿童视力丧失的近10%。
方法
本研究招募了一个四代中国家庭，该家庭有7名患者。进行外显子组测序以确定先天性白内障的遗传原因。
结果
数据分析在该基因中鉴定出一种新的移码突变，即c.608delC（p.A203fs）。仅在受影响个体中观察到这种突变，而该家族的未受影响成员以及100名种族匹配的正常对照中均未发现这种缺失。
结论
这些发现表明p.A203fs是所招募家庭中白内障的病因。这些信息将有助于白内障的基因诊断以及类似患者的遗传咨询。
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