Mutation analysis of a family affected with isolated proteinuria.
10.3760/cma.j.issn.1003-9406.2019.06.017
- Author:
Zhao YANG
1
;
Chongjuan GU
;
Xulei ZHENG
;
Hao TAN
;
Yilu LU
;
Yongxin MA
Author Information
1. Laboratory of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China. Email: mayongxin@gmail.com.
- Publication Type:Journal Article
- MeSH:
DNA Mutational Analysis;
Family;
High-Throughput Nucleotide Sequencing;
Humans;
Mutation;
Proteinuria;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(6):598-601
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical characteristics and genetic features of a family affected with isolated proteinuria.
METHODS:Clinical data of the family was collected. Mutations of 191 renal disease-related genes in the proband were screened with next generation sequencing (NGS). Sanger sequencing was used to verify suspected mutations in his family members and 100 healthy controls. The impact of the mutation was predicted with online software SIFT. Frequency of the mutation was searched in databases including 1000 Genomic Project, ESP and ExAC.
RESULTS:NGS and Sanger sequencing showed that the proband harbored compound heterozygous mutations of ADCK4 gene including c.748C>G (p.Asp250His) and c.1041G>T (p.Cys347*), which were respectively inherited from his mother and father whom were both non-symptomatic.
CONCLUSION:The proband may have ADCK4-associated glomerulopathy due to the compound heterozygous mutations of the ADCK4 gene.
