Abstract
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.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Base Sequence
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Brain / pathology
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Child, Preschool
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Codon, Nonsense / genetics
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DNA / genetics
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Diffuse Cerebral Sclerosis of Schilder / genetics*
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Diffuse Cerebral Sclerosis of Schilder / pathology
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Female
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Genetic Linkage
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Humans
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Male
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Myelin Proteolipid Protein / genetics*
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Paraplegia / genetics*
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Paraplegia / pathology
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Pedigree
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Point Mutation*
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Polymorphism, Single-Stranded Conformational
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Spinal Cord / pathology
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X Chromosome / genetics*
Substances
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Codon, Nonsense
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Myelin Proteolipid Protein
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DNA