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Article

Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.

American journal of medical genetics. Part A - 1 Feb 2018

Kosaki Rika, Horikawa Reiko, Fujii Eriko, Kosaki Kenjiro

Abstract excerpt

Perrault syndrome represents a genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and ovarian dysfunction in females. Causative genes include HARS2, HSD17B4, CLPP, C10orf2, and LARS2. Some patients with Perrault syndrome exhibit neurologic features including learning disability, cerebellar ataxia, and peripheral neuropathy and are classified as type 2 and are...

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Source

Identifiers

PMID: 29205794
DOI: 10.1002/ajmg.a.38552

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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