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Article

Novel PKD1 Mutation (c.G10086T) Drives High Intracranial Aneurysm Risk in Autosomal Dominant Polycystic Kidney Disease.

European journal of neurology - 1 Feb 2025

Gao Lili, Lin Min, Wu Chenghan, Liao Yuansheng, Lin Zuopeng, Yan Xiaohua, Lin Sheng, Wang Yinzhou, Chen Jing, Zheng Zhaocong, Lin Jushan, Zhang Sheng, Guan Jianhua, Qiu Yan, Liao Jilian, Wu Lihua

Abstract excerpt

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is frequently complicated by intracranial aneurysms (IAs). However, the genetic factors driving the elevated IA risk in ADPKD remain poorly understood. In this study, we identified a novel PKD1 mutation associated with a remarkably high IA incidence in a large Chinese ADPKD family. METHODS: We conducted whole-exome sequencing in a three-generation...

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Identifiers

PMID: 39973757
DOI: 10.1111/ene.70086
PMCID: PMC11840425

Genes

PKD1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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