Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.
"Pelizaeus-Merzbacher-like syndrome" is an undetermined leukodystrophy disorder of diffuse hypomyelination. The patients' clinical phenotype is indistinguishable from classical Pelizaeus-Merzbacher disease (PMD), but the patients lack PLP1 gene duplications or mutations. They represent about 20% of all cases with a clinical PMD phenotype. The M6b gene has been localized to Xp22.2. The encoded M6B protein is a member of a novel proteolipid family that also includes other major brain myelin components like the proteolipid protein (PLP). Recent cotransfection experiments suggest a protein-protein interaction of M6B and mutant PLP1 that may contribute to oligodendrocyte dysfunction in PMD. Therefore, M6b has been considered a good candidate gene for Pelizaeus-Merzbacher-like syndrome. However, our molecular analyses in eight thoroughly characterized patients make it unlikely that mutations in this gene are involved in this subgroup of human hypomyelination disorders.
Henneke
Marco
M
Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.
Wehner
Lars-Erik
LE
Hennies
Hans Christian
HC
Preuss
Natalie
N
Gärtner
Jutta
J
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008055:Lipids / Q000737:chemistry; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008957:Models, Genetic; D009154:Mutation; D018991:Myelin Proteolipid Protein / Q000737:chemistry; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009836:Oligodendroglia / Q000378:metabolism; D009841:Oligonucleotides / Q000737:chemistry; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011485:Protein Binding; D013106:Sphingolipidoses / Q000473:pathology; D013577:Syndrome; D014162:Transfection
C484160:GPM6B protein, human; D008055:Lipids; D008562:Membrane Glycoproteins; D018991:Myelin Proteolipid Protein; D009419:Nerve Tissue Proteins; D009841:Oligonucleotides