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.
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.
Sakamoto
O
O
Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
Ohura
T
T
Katsushima
Y
Y
Fujiwara
I
I
Ogawa
E
E
Miyabayashi
S
S
Iinuma
K
K
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*
D017931:DNA Primers; D004268:DNA-Binding Proteins; D011506:Proteins; D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human