X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).
A transition C506T was found in exon 4 of the proteolipid protein gene of a boy with spastic paraplegia. This mutation resulted in the substitution of phenylalanine for serine 169, which is in the third transmembrane domain of the proteolipid protein molecule. The mutation apparently arose de novo, as it was absent from his mother.
Hodes
M E
ME
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA. mhodes@medgen.iupui.edu
Hadjisavvas
A
A
Butler
I J
IJ
Aydanian
A
A
Dlouhy
S R
SR
D019943:Amino Acid Substitution / Q000235:genetics*; D002547:Cerebral Palsy / Q000235:genetics; D002648:Child; D005091:Exons / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D010649:Phenylalanine; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012694:Serine; D014960:X Chromosome / Q000235:genetics*
D018991:Myelin Proteolipid Protein; D012694:Serine; D010649:Phenylalanine