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Abstract: TH-PO374

Six Novel PDK1 Mutations Identified From Six Chinese Families With Autosomal Dominant Polycystic Kidney Disease

Session Information

Category: Genetic Diseases of the Kidneys

  • 1101 Genetic Diseases of the Kidneys: Cystic

Authors

  • Zhuang, Jing, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, China
  • Aierken, Ailima, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, China
  • Yalikun, Dilina, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, China
  • Zhang, Jun, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, China
  • Wang, Xiaoqin, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, China
  • Jiang, Hong, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, China
Introduction

ADPKD is the monogenetic kidney cystic disease, mainly resulting from mutations in either polycystic kidney disease 1 (PKD1) or PKD2 genes.Our study aimed to characterize variants in Chinese patients by identifying pathogenic genes related to ADPKD to further unravel its pathogenesis

Case Description

Clinical data and genetic information of six Chinese ADPKD adult patients were analyzed using the next-generation sequencing technique.Their family members were analyzed for the specific variant using Sanger sequencing
In pedigree A,the male proband with chronic kidney disease (CKD) stage 2,hypertension (HT) and polycystic liver disease (PL) showed missense mutation(c.8447T>C and c.4247T>G) in PKD1.In pedigree B,the female proband with CKD stage 2,HT,PL and intracranial arachnoid cyst howed a nonsense mutation (c.3298_3301delGAGT) in PKD1 In pedigree C the female proband with CKD stage 5,HT and PL showed missense mutation (c.4798A>G and c.6406C>T) in PKD1.In pedigree D,the female proband with CKD stage 3 and ovarian cyst (OC) showed a missense mutation (c.7567G>A) in PKD1.In pedigree E,the male proband with CKD stage 5,HT,PL and Epididymal cyst (EC) showed a nonsense mutation (c.11215C>T) and a missense mutation (c.11717G>C) in PKD1.In pedigree F,the male proband with CKD stage 5 and HT showed a nonsense mutation (c.7703+5G>C) in PKD1.Family members carried the same mutations as the probands respectively.Six novel mutation sites have been discovered in PKD1:c.4247T>G;c.3298_3301delGAGT;c.4798A>G;c.7567G>A;c.11717G>C;c.7703+5G>C.

Discussion

The newly discovered PKD1 mutation site enriches the ADPKD gene mutation spectrum in the domestic population,which contributes to the early diagnosis and prognosis prediction of ADPKD patients,and provides relevant genetic information for early clinical intervention.