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Article

A de novo PKD1 mutation in a Chinese family with autosomal dominant polycystic kidney disease.

Medicine - 29 Mar 2024

Wei Ting, Zhang Bing, Tang Wei, Li Xin, Shuai Zhuang, Tang Tao, Zhang Yueyang, Deng Lin, Liu Qingsong

Abstract excerpt

BACKGROUND: PKD1, which has a relatively high mutation rate, is highly polymorphic, and the role of PKD1 is incompletely defined. In the current study, in order to determine the molecular etiology of a family with autosomal dominant polycystic kidney disease, the pathogenicity of an frameshift mutation in the PKD1 gene, c.9484delC, was evaluated. METHODS: The family clinical data were collected. Whole exome...

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Identifiers

PMID: 38552045
DOI: 10.1097/MD.0000000000027853
PMCID: PMC10977567

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