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

Osamu Sakamoto, T. Ohura, Y. Katsushima, Ikuma Fujiwara, E. Ogawa, S. Miyabayashi, K. Iinuma

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)559-563
Number of pages5
JournalHuman Genetics
Volume109
Issue number5
DOIs
Publication statusPublished - 2001 Dec 6

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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