Disease genes detection of two anterior segment dysgenesis pedigree by whole exome sequence
10.13389/j.cnki.rao.2017.0059
- VernacularTitle: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
- Author:
Kai WANG
;
Dan ZHANG
;
Peng HAO
;
Liming WANG
;
Ningdong LI
;
Xuan LI
- Keywords:
whole exome sequence;
anterior segment dysgenesis;
PAX6 gene
- From:
Recent Advances in Ophthalmology
2017;37(3):235-238,243
- CountryChina
- Language:Chinese
-
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.
