Pelizaeus-Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene.
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.
Pham-Dinh
D
D
Equipe ATIPE, URA 1488 CNRS, Paris, France.
Boespflug-Tanguy
O
O
Mimault
C
C
Cavagna
A
A
Giraud
G
G
Leberre
G
G
Lemarec
B
B
Dautigny
A
A
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D018991:Myelin Proteolipid Protein; D010375:Pedigree; D014960:X Chromosome
D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein; D004247:DNA