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

Yukihiko Mashima, Richard G. Weleber, Nancy G. Kennaway, George Inana

Research output: Contribution to journalArticle

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Gyrate atrophy (GA) is an autosomal recessive eye disease involving a progressive loss of vision due to chorioretinal degeneration in which the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is defective. Two sisters with GA are described in this study in whom an A-to-G substitution at the 3′ splice acceptor site of intron 4 in one allele of the OAT gene results in a truncated OAT mRNA devoid of exon 5 sequence. The mutation in the other allele was identified to be a missense mutation at codon 318 by denaturing gradient gel electrophoresis and direct sequencing of the polymerase chain reaction (PCR)-amplified DNA. Thus, these GA patients are compound heterozygotes with respect to mutations in the OAT gene that result in inactivation of OAT.

Original languageEnglish (US)
Pages (from-to)305-307
Number of pages3
JournalHuman genetics
Issue number3
StatePublished - Nov 1 1992


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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