Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms.

doi:10.1002/ajmg.a.70203

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Article

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms.

American journal of medical genetics. Part A - 1 Oct 2026

Siu Victoria Mok, Kenana Rosan, Chakrabarti Rana, Wilhelm Sarah D P, Andrews Joseph, Leat Susan J, Parker Christina, Miller Michael, Nangle Leslie A, McCaul Wendy, Chowdhury Ashfia, Hutchings Natalie, Adams Ryan A, Guy Lauren, Rhody Mandy, Juncal Verena, Mendes Marisa I, Smith Desiree E C, Salomons Gajja S, Moresco Angelica A, McCulloch Daphne L, Morton D Holmes, Heinemann Ilka U, Rupar C Anthony

Abstract excerpt

Autosomal recessive HARS1-related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl-tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses. In-vitro studies have previously shown that histidine can rescue a humanized yeast...

Read the complete abstract on PubMed

Topics

Humans
Male
Histidine
Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Usher Syndromes

Histidine-tRNA Ligase

Female

Child

Genes, Recessive

Vision, Ocular

Dietary Supplements

Infant

Homozygote

Mutation

Source

Open in PubMed

Identifiers

PMID: 42157369
DOI: 10.1002/ajmg.a.70203

Genes

HARS1
BID

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms.PMID 42157369Read ↗

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