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A de novo splice donor site mutation causes in‐frame deletion of 14 amino acids in the proteolipid protein in Pelizaeus‐Merzbacher disease

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. Ann Neurol 1999;46:112–115