Evidence of a third locus in X-linked recessive spastic paraplegia.
We have investigated a family with severe X-linked spastic paraplegia and assigned the disease locus to Xq11.2-q23 by linkage and haplotype analysis. This region harbors the gene coding for proteolipid protein, which is mutated in one of the two established forms of X-linked spastic paraplegia, i.e., SPG2. We have performed extensive mutation analysis of this gene. Our failure to detect a mutation in this family suggests a third locus in X-linked recessive spastic paraplegia.
Steinmüller
R
R
Lantigua-Cruz
A
A
Garcia-Garcia
R
R
Kostrzewa
M
M
Steinberger
D
D
Müller
U
U
D004268:DNA-Binding Proteins / Q000235:genetics; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007438:Introns; D008297:Male; D010375:Pedigree; D017422:Sequence Analysis, DNA; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D014960:X Chromosome / Q000235:genetics*
D004268:DNA-Binding Proteins; C078341:MYT1 protein, human; D014157:Transcription Factors