Author:
Guo Ruru,Huang Dandan,Ji Jian,Liu Wei
Abstract
Abstract
Background
To identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China.
Methods
Targeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was constructed to identify the protein structural change, several online software were used to predict the mutation impact. CLUSTALW was used to perform multiple sequence alignment from different species.
Results
A novel heterozygous mutation, GJA8 NM_005267.5: c.124G > A, p.(E42K) was found, which cosegregated with congenital cataract phenotype in this family. Bioinformatics analysis of the mutation showed that the surface potential diagram of proteins changed. Several online programs predicted the mutation was ‘Pathogenic’, ‘Damaging’, ‘Disease causing’ or ‘Deleterious’.
Conclusions
A novel mutation NM_005267.5(GJA8):c.124G > A was identified in our study. Our finding can broaden the mutation spectrum of GJA8, enrich the phenotype-genotype correlation of congenital cataract and help to better understand the genetic background of congenital cataract.
Funder
Youth Special Fund of Clinical Research of Tianjin Medical University Eye Hospital
Open Project of Tianjin Key Laboratory of Retinal Functions and Diseases
Tianjin Key Medical Discipline (Specialty) Construction Project
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology,General Medicine
Reference20 articles.
1. Pichi F, Lembo A, Serafino M, Nucci P. Genetics of congenital cataract. Dev Ophthalmol. 2016;57:1–14.
2. Santana A, Waiswo M. The genetic and molecular basis of congenital cataract. Arq Bras Oftalmol. 2011;74:136–42.
3. Sheeladevi S, Lawrenson JG, Fielder AR, Suttle CM. Global prevalence of childhood cataract: a systematic review. Eye (Lond). 2016;30:1160–9.
4. Gilbert C, Foster A. Childhood blindness in the context of VISION 2020–the right to sight. Bull World Health Organ. 2001;79:227–32.
5. Zhang XH, Da Wang J, Jia HY, Zhang JS, Li Y, Xiong Y, et al. Mutation profiles of congenital cataract genes in 21 northern Chinese families. Mol Vis. 2018;24:471–7.
Cited by
6 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献