Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

doi:10.1016/j.ajhg.2013.02.013

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Article

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

American journal of human genetics - 4 Apr 2013

Jenkinson Emma M, Rehman Atteeq U, Walsh Tom, Clayton-Smith Jill, Lee Kwanghyuk, Morell Robert J, Drummond Meghan C, Khan Shaheen N, Naeem Muhammad Asif, Rauf Bushra, Billington Neil, Schultz Julie M, Urquhart Jill E, Lee Ming K, Berry Andrew, Hanley Neil A, Mehta Sarju, Cilliers Deirdre, Clayton Peter E, Kingston Helen, Smith Miriam J, Warner Thomas T, Black Graeme C, Trump Dorothy, Davis Julian R E, Ahmad Wasim, Leal Suzanne M, Riazuddin Sheikh, King Mary-Claire, Friedman Thomas B, Newman William G

Abstract excerpt

Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. By a combination of linkage analysis, homozygosity mapping, and exome sequencing in three families, we identified mutations in CLPP as the likely cause of this phenotype. In each family, affected individuals were homozygous for a different pathogenic CLPP...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23541340
DOI: 10.1016/j.ajhg.2013.02.013
PMCID: PMC3617381

Genes

CLPP
HARS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.PMID 23541340Read ↗

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