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Article

Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.

American journal of human genetics - 1 Nov 1990

McClatchey A I, Kaufman D L, Berson E L, Tobin A J, Shih V E, Gusella J F, Ramesh V

Abstract excerpt

Gyrate atrophy (GA), a recessive eye disease involving progressive vision loss due to chorioretinal degeneration, is associated with the deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT), with consequent hyperornithinemia. We and others have reported a number of missense mutations at the OAT locus which result in GA. Here we report a GA patient of Danish/Swedish ancestry in whom one OAT...

Topics

Adult
Alleles
Chromosome Deletion
Chromosome Mapping
Exons
Gyrate Atrophy
Humans
Male
Mutation
Ornithine-Oxo-Acid Transaminase
RNA Splicing
RNA, Messenger

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Open in PubMed Open full text

Identifiers

PMID: 2220818
PMCID: PMC1683684

Genes

OAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2220818-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.PMID 2220818Read ↗

A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.Semantic proximity Read ↗

Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.Semantic proximity Read ↗

Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.Semantic proximity Read ↗

Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.Semantic proximity Read ↗

Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT.Semantic proximity Read ↗

Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of <em>OAT</em>Semantic proximity Read ↗

Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1.Semantic proximity Read ↗

Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.Semantic proximity Read ↗

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.Semantic proximity Read ↗

Rapid and efficient molecular analysis of gyrate atrophy using denaturing gradient gel electrophoresis.Semantic proximity Read ↗

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophySemantic proximity Read ↗

A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female.Semantic proximity Read ↗

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