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Article

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

Journal of human genetics - 1 Apr 2016

Soldà Giulia, Caccia Sonia, Robusto Michela, Chiereghin Chiara, Castorina Pierangela, Ambrosetti Umberto, Duga Stefano, Asselta Rosanna

Abstract excerpt

Perrault syndrome (MIM #233400) is a rare autosomal recessive disorder characterized by ovarian dysgenesis and primary ovarian insufficiency in females, and progressive hearing loss in both genders. Recently, mutations in five genes (HSD17B4, HARS2, CLPP, LARS2 and C10ORF2) were found to be responsible for Perrault syndrome, although they do not account for all cases of this genetically heterogeneous condition....

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Share to Amino Acyl-tRNA Synthetases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endopeptidase Clp

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Source

Open in PubMed Open full text

Identifiers

PMID: 26657938
DOI: 10.1038/jhg.2015.149
PMCID: PMC4817218

Genes

LARS2
CLPP
HARS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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