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.
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Sakamoto, O., Ohura, T., Katsushima, Y. et al. 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. Hum Genet 109, 559–563 (2001). https://doi.org/10.1007/s00439-001-0612-3
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DOI: https://doi.org/10.1007/s00439-001-0612-3