1999年
A de novo splice donor site mutation causes in-frame deletion of 14 amino acids in the proteolipid protein in Pelizaeus-Merzbacher disease
Annals of Neurology
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- 巻
- 46
- 号
- 1
- 開始ページ
- 112
- 終了ページ
- 115
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1002/1531-8249(199907)46:1<112::AID-ANA16>3.0.CO;2-U
Pelizaeus-Merzbacher disease (PMD) is a leukodystrophy associated with mutations in the proteolipid protein (PLP) gene. Jimpy is a mouse model of human PMD, and a splice site mutation in Jimpy causes the deletion of exon 5 from the PLP mRNA, producing a truncated form of PLP. We describe a de novo point mutation at the 5' splice donor site of exon 5 in a 17-year-old male with PMD, which results in the skipping of 42 base pairs of exon 5. The mutation removes only 14 amino acids in-frame of PLP. This is a novel splice donor site mutation in the human PLP gene. Moreover, the results indicate that the 14-amino acid deletion in the PLP is responsible for oligodendrocyte cell death and the development of PMD.
- リンク情報
- ID情報
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- DOI : 10.1002/1531-8249(199907)46:1<112::AID-ANA16>3.0.CO;2-U
- ISSN : 0364-5134
- PubMed ID : 10401787
- SCOPUS ID : 0032970391