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Article

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

Human mutation - 1 Aug 2020

Riley Lisa G, Rudinger-Thirion Joëlle, Frugier Magali, Wilson Meredith, Luig Melissa, Alahakoon Thushari Indika, Nixon Cheng Yee, Kirk Edwin P, Roscioli Tony, Lunke Sebastian, Stark Zornitza, Wierenga Klaas J, Palle Sirish, Walsh Maie, Higgs Emily, Arbuckle Susan, Thirukeswaran Shalini, Compton Alison G, Thorburn David R, Christodoulou John

Abstract excerpt

LARS2 variants are associated with Perrault syndrome, characterized by premature ovarian failure and hearing loss, and with an infantile lethal multisystem disorder: Hydrops, lactic acidosis, sideroblastic anemia (HLASA) in one individual. Recently we reported LARS2 deafness with (ovario) leukodystrophy. Here we describe five patients with a range of phenotypes, in whom we identified biallelic LARS2 variants:...

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Identifiers

PMID: 32442335
DOI: 10.1002/humu.24050

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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