Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene.
We report on a C-to-T transition in exon 6 of the PLP gene in a male with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The transition changes a glutamine at amino acid residue 233 to a termination codon. This premature stop codon probably results in a truncated protein that is not functional. Six other relatives were analyzed for the mutation and two female carriers were identified. Autopsy data on one male are presented.
Bond
C
C
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
Si
X
X
Crisp
M
M
Wong
P
P
Paulson
G W
GW
Boesel
C P
CP
Dlouhy
S R
SR
Hodes
M E
ME
D000328:Adult; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics; D004247:DNA / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000473:pathology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D013116:Spinal Cord / Q000473:pathology; D014960:X Chromosome / Q000235:genetics*
D018389:Codon, Nonsense; D018991:Myelin Proteolipid Protein; D004247:DNA