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Article

Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.

Reproductive sciences (Thousand Oaks, Calif.) - 1 Jul 2026

Tlili Abdelaziz, Khudeir Joudi Feras

Abstract excerpt

Perrault syndrome is a genetically and clinically diverse autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and primary ovarian insufficiency in females. This comprehensive review synthesizes data from various studies to map the genetic architecture of Perrault syndrome, highlighting mutations in fifteen principal genes: HSD17B4, HARS2, CLPP, LARS2, TWNK, ERAL1, RMND1, DAP3,...

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Share to Genetic Predisposition to Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42283975
DOI: 10.1007/s43032-026-02126-3

Genes

CLPP
DAP3
ERAL1
GGPS1
HARS2
HSD17B4
LARS2
MRPL49
MRPL50
MRPS7
PEX6
PRORP
RMND1
TFAM
TWNK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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