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CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study.

Human genomics - 23 May 2025

Long Xicui, Yang Bingqian, Wang Wei, Peng Wan, Wang Xiaolu, Xiong Wenyu, Liu Man, Yuan Huijun, Lu Yu

Abstract excerpt

BACKGROUND: Perrault syndrome is a rare autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and primary ovarian insufficiency (POI) secondary to ovarian dysgenesis. However, the mutation spectrum of disease-causing genes for Perrault syndrome in the Chinese population remains poorly understood. In this study, we report on two Chinese families with Perrault syndrome type 3 caused by...

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Source

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Identifiers

PMID: 40410890
DOI: 10.1186/s40246-025-00762-5
PMCID: PMC12102955

Genes

CLPP

Provenance

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

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