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Article

A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.

Journal of human genetics - 1 Mar 2020

Demain Leigh A M, Gerkes Erica H, Smith Richard J H, Molina-Ramirez Leslie P, O'Keefe Raymond T, Newman William G

Abstract excerpt

HARS2 encodes mitochondrial histidyl-tRNA synthetase (HARS2), which links histidine to its cognate tRNA in the mitochondrial matrix. Biallelic variants in HARS2 are associated with Perrault syndrome, a rare recessive condition characterized by sensorineural hearing loss in both sexes and primary ovarian insufficiency in 46,XX females. Some individuals with Perrault syndrome have a broader phenotypic spectrum with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31827252
DOI: 10.1038/s10038-019-0706-1
PMCID: PMC7500128

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