title: A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.
abstract: 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 mis-sense 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.
authors: Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami School of Medicine, FL 33136.
authors: Y
authors: Y
authors: Mashima
authors: R G
authors: RG
authors: Weleber
authors: N G
authors: NG
authors: Kennaway
authors: G
authors: G
authors: Inana
mesh_terms: D000225:Adenine; D001483:Base Sequence; D004247:DNA; D005260:Female; D006147:Guanine; D015799:Gyrate Atrophy / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009953:Ornithine-Oxo-Acid Transaminase / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012326:RNA Splicing
chemical_list: D006147:Guanine; D004247:DNA; D009953:Ornithine-Oxo-Acid Transaminase; D000225:Adenine