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

O. Sakamoto; T. Ohura; Y. Katsushima; I. Fujiwara; E. Ogawa; S. Miyabayashi; K. Iinuma

doi:10.1007/s00439-001-0612-3

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

O. Sakamoto, T. Ohura, Y. Katsushima, I. Fujiwara, E. Ogawa, S. Miyabayashi, K. Iinuma

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	559-563
Number of pages	5
Journal	Human Genetics
Volume	109
Issue number	5
DOIs	https://doi.org/10.1007/s00439-001-0612-3
Publication status	Published - 2001

ASJC Scopus subject areas

Genetics
Genetics(clinical)

UN SDGs

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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. / Sakamoto, O.; Ohura, T.; Katsushima, Y.; Fujiwara, I.; Ogawa, E.; Miyabayashi, S.; Iinuma, K.

In: Human Genetics, Vol. 109, No. 5, 2001, p. 559-563.

Research output: Contribution to journal › Article › peer-review

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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.",

author = "O. Sakamoto and T. Ohura and Y. Katsushima and I. Fujiwara and E. Ogawa and S. Miyabayashi and K. Iinuma",

note = "Funding Information: Acknowledgements We thank Drs. Yoichi Matsubara, Shigeo Kure, and Yoichi Suzuki (Department of Medical Genetics, To-hoku University School of Medicine) for their helpful discussion, and Ms. Sachiko Sato for technical assistance. This work was supported by a grant from the Ministry of Health and Public Welfare of Japan (Comprehensive Research on Aging and Health).",

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doi = "10.1007/s00439-001-0612-3",

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T2 - Creation of a 5′ splice donor site with variant GC consensus and elongation of the upstream exon

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AU - Ohura, T.

AU - Katsushima, Y.

AU - Fujiwara, I.

AU - Ogawa, E.

AU - Miyabayashi, S.

AU - Iinuma, K.

N1 - Funding Information: Acknowledgements We thank Drs. Yoichi Matsubara, Shigeo Kure, and Yoichi Suzuki (Department of Medical Genetics, To-hoku University School of Medicine) for their helpful discussion, and Ms. Sachiko Sato for technical assistance. This work was supported by a grant from the Ministry of Health and Public Welfare of Japan (Comprehensive Research on Aging and Health).

PY - 2001

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N2 - 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.

AB - 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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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

ASJC Scopus subject areas

UN SDGs

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