title: A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon.
abstract: Mutation analysis of the TAZ ( G4.5) gene was performed on a patient with Barth syndrome. The reverse transcription/polymerase chain reaction procedure showed aberrant splicing and elongation of exon 3 because of the insertion of 106 bases (IVS3+1 to +106) between exons 3 and 4. The genomic DNA revealed an intronic mutation four bases downstream from the new cleavage site (IVS3+110G-->A). The IVS3+110G-->A mutation created a novel 5' splice site that showed GC but not GT, and the additional splice site was used preferentially over the upstream authentic slice site. This is a new type of splicing mutation responsible for a human genetic disease.
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
authors.forename: O
authors.initials: O
authors.lastname: Sakamoto
authors.forename: T
authors.initials: T
authors.lastname: Ohura
authors.forename: Y
authors.initials: Y
authors.lastname: Katsushima
authors.forename: I
authors.initials: I
authors.lastname: Fujiwara
authors.forename: E
authors.initials: E
authors.lastname: Ogawa
authors.forename: S
authors.initials: S
authors.lastname: Miyabayashi
authors.forename: K
authors.initials: K
authors.lastname: Iinuma
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000217:Acyltransferases; D000818:Animals; D001483:Base Sequence; D019556:COS Cells; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D006801:Humans; D007438:Introns; D009154:Mutation; D016133:Polymerase Chain Reaction; D011506:Proteins; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D011506:Proteins; D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human