Article
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 - 1 Jul 1999
Aoyagi Y, Kobayashi H, Tanaka K, Ozawa T, Nitta H, Tsuji S
Abstract excerpt
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...
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