Pathogenic gene screening and phenotypic analysis of six albinism families
10.3760/cma.j.issn.1005-1015.2018.06.003
- VernacularTitle:六个白化病家系的致病基因筛查及表型分析
- Author:
Jie LI
1
;
Yasi XING
;
Zhanrong LI
;
Xiaonan LU
;
Shuzhen DAI
Author Information
1. 河南省人民医院眼科郑州大学人民医院眼科河南省立眼科医院河南省眼科研究所
- Keywords:
Albinism,oculocutaneous/genetics;
GPR143 gene;
Heterozygote;
Mutation
- From:
Chinese Journal of Ocular Fundus Diseases
2018;34(6):536-540
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the pathogenic gene types and phenotypic characteristics of 6 albinism families.Methods A retrospective series of case studies.Six probands of albinism and 20 family members were recruited for this study,5 probands with clinical manifestations of oculocutaneous albinism (OCA) and 1 proband of ocular albinism (OA).Genomic DNA was extracted from peripheral venous blood which was collected from 6 probands and 20 family members.Genetic variations were screened by whole-exome sequencing or Sanger sequencing and then analyzed the relationship between genotypes and phenotypes.Results Genetic sequencing identified 6 potential pathogenic variants in 4 probands,including 2 compound heterozygous mutations in the 2 genes [TYR (c.1037-7T＞A,c.925_c.926insC),OCA2 (c.2359G＞A,c.587T＞C)] associated with OCA1 and OCA2,and 2 hemizygous mutations in the GPR143[GPR143 (c.11C ＞ G),GPR 143 (c.333 G ＞ A)] as sociated with OA 1,respectively.In which,5 were novel mutations and confirmed by Sanger sequencing.One case was accorded with OCA in clinical phenotype,but genetic diagnosis was OA1,the others were agreement between clinical diagnosis and genetic diagnosis.Conclusion There are 4 families with mutations in 6 families,representative of 3 type of albinism (OCA1,OCA2,OA1).
