Analysis of mutations in six Chinese families with autosomal dominant polycystic kidney disease.

ABSTRACT: Autosomal dominant polycystic kidney disease (ADPKD) is the common hereditary kidney disease, resulting from mutations in polycystic kidney disease 1 (PKD1) and polycystic kidney disease 2 (PKD2). Clinical data and genetic features of six Chinese families including ADPKD patients were analyzed via Next generation sequencing (NGS), Sanger sequencing, and multiplex ligation-dependent probe amplification. In family A, the proband (II5) with polycystic kidney (PK), hypertension, left ventricular hypertrophy, and valvular heart disease exhibited a heterozygous nonsense mutation, c.5086C>T (p.Gln1696Ter), in PKD1 (NM_001009944). In family B, the proband (II3) with PK, polycystic liver (PL), hypertension, hypertrophy of the left ventricle and septum, valvular heart disease, c

SUBMITTER: Wang H 

PROVIDER: S-EPMC7791523 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature