眼科新进展2017，Vol.37Issue(3)：235-238,243,5.DOI:10.13389/j.cnki.rao.2017.0059
全外显子组测序技术对两个眼前节发育不良家系致病基因检测
Disease genes detection of two anterior segment dysgenesis pedigree by whole exome sequence
摘要
Abstract
Objective To identify the disease-causing gene mutation in families with anterior segment dysgenesis (ASD).Methods Two ASD families coming from Henan and Hebei provinces were enrolled in this study.Ocular examinations were performed,and periphery blood specimens were collected from each family member under the informed consent.The blood samples of 2 patients and 1 normal person in family 1 and 1 patient and 1 normal person in family 2 were analyzed by the whole exome sequences.The candidate genes were verified by Sanger sequence and predicted damages by PolyPhen-2 and SIFT Human Splicing Finder software.Results Family 1 including 9 patients were examined in serial 3 passages,which conformed to autosomal dominant inheritance pattern.Clinical examination revealed binocular anterior segment dysgenesis in the 9 patients.There were 13 SNV and 55 InDel candidate mutations.And missense mutation c.T2A(p.M1K)on PAX6 gene was found.Family 2 included 8 members,and 2 patients were examined.The splicing mutation c.357 + 1g ＞ c on the same gene was found.Conclusion T2A(p.M1 K) and c.357 + 1 g ＞ c mutations in PAX6 gene are responsible for ASD.Whole exome sequence provides a new approach to detect diseasecausing mutation of ASD with diversity clinical phenotypes.关键词
全外显子组测序/眼前节发育不良/PAX6基因Key words
whole exome sequence/anterior segment dysgenesis/PAX6 gene分类
医药卫生引用本文复制引用
王凯,张丹,郝朋,王犁明,李宁东,李轩..全外显子组测序技术对两个眼前节发育不良家系致病基因检测[J].眼科新进展,2017,37(3):235-238,243,5.基金项目
国家自然科学基金资助(编号:81170884)National Natural Science Foundation of China (No:81170884) （编号:81170884）
