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Article

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.

American journal of human genetics - 4 Apr 2013

Pierce Sarah B, Gersak Ksenija, Michaelson-Cohen Rachel, Walsh Tom, Lee Ming K, Malach Daniel, Klevit Rachel E, King Mary-Claire, Levy-Lahad Ephrat

Abstract excerpt

The genetic causes of premature ovarian failure (POF) are highly heterogeneous, and causative mutations have been identified in more than ten genes so far. In two families affected by POF accompanied by hearing loss (together, these symptoms compose Perrault syndrome), exome sequencing revealed mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase: homozygous c.1565C>A (p.Thr522Asn) in a...

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Source

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Identifiers

PMID: 23541342
DOI: 10.1016/j.ajhg.2013.03.007
PMCID: PMC3617377

Genes

LARS2
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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Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.PMID 23541342Read ↗

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