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Article

A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family.

Singapore medical journal - 1 Apr 2024

Zhang Junlin, Wang Yiting, Zhao Yingwang, Liu Fang

Abstract excerpt

INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is a very common hereditary renal disorder. Mutations in PKD1 and PKD2 , identified as disease-causing genes, account for 85% and 15% of the ADPKD cases, respectively. METHODS: In this study, the mutation analysis of polycystic kidney disease (PKD) genes was performed in a Chinese family with suspected ADPKD using targeted clinical exome...

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Identifiers

PMID: 34749493
DOI: 10.11622/smedj.2021162
PMCID: PMC11132625

Genes

PKD2
PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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