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© 1993 Oxford University Press

OTHER

Pelizaeus — Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene

Danielle Pham-Dinh, Odile Boespflug-Tanguy1, Corinne Mimault1, Annie Cavagna1, Geneviève Giraud1, Gérard Leberre2, Bernard Lemarec2 and André Dautigny*

Equipe ATIPE, URA 1488 CNRS boite 14, Batiment B, 9 Quai Saint-Bernard, F-75252 Paris Cedex 1Laboratoire de Biochimie Médicale, Faculté de médecine, Clermont-Ferrand Cedex CHU Rennes, France 2Service de Génétique Pédiatrique CHU Rennes, France

* To whom correspondence should be addressed

Received December 16, 1992; Revised January 22, 1993; Accepted January 22, 1993

Among the central nervous system (CNS) dysmyelinating disorders, Pelizaeus-Merzbacher disease (PMD) has been individualized by its X-linked mode of inheritance and the existence of corresponding animal models. Mutations in the major myelin proteolipid (PLP) gene coding for PLP and its splicing variant DM20 protein, have been demonstrated in animal mutants and more recently in PMD affected patients. We have identified, in a two-generation PMD affected family, an insertion/deletion event in the exon IV of the PLP gene, leading to the synthesis of predicted truncated PLP and DM20 proteins with altered carboxyl terminal end. This is the first report of a frameshift mutation in the PLP gene in PMD.


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