A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus — Merzbacher disease

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Abstract
Pelizaeus — Merzbacher disease (PMD) is an X-linked neurological disorder characterized by dysmyelination in the central nervous system (CNS). Recently mutations of the myelln proteollpid protein (PLP) gene which encodes both PLP and Its Isoform, DM-20 generated by alternative spllcing, have been demonstrated In PMD patients. We analyzed the seven exons of the PLP gene of a Japanese boy affected with PMD by direct sequencing and identified an Insertion event In exon Vll of the PLP gene. This mutation was also present In his carrier mother, but was absent In ninety-five X chromosomes of normal Japanese. The frame-shift mutation leads to the production of truncated PLP with altered carboxyl terminal amlno acid sequences, resulting In conslderable change of the structure of PLP and DM-20 necessary for functional purposes. This is the first report of a mutation In exon Vll of the PLP gene associated with PMD.

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