Mutation analysis of a family affected with isolated proteinuria / 中华医学遗传学杂志

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.