title: Oligodendroglial transcription factor (OLIG1 and OLIG2) mutations are not associated with Pelizaeus-Merzbacher-like leukodystrophy.
abstract: The human phenotype with primarily impaired myelination is represented by hypomyelinating leukodystrophies. The most frequent form is Pelizaeus-Merzbacher disease, which is due to alterations in the PLP1 gene encoding the major myelin protein. Another form, Pelizaeus-Merzbacher-like disease, is partly associated with mutations in the GJA12 gene encoding gap junction protein alpha 12, but seems to be heterogeneous. Olig1 and Olig2 are transcription factors in oligodendrocyte development. We postulated that disturbed oligodendroglial maturation could be associated with primary hypomyelination in humans and analyzed the coding sequence of OLIG1 and OLIG2 in 13 patients from 12 unrelated families which were thoroughly characterized with regard to phenotype and magnetic resonance imaging results. From our findings we conclude that mutations in OLIG1 and OLIG2 are not likely to be associated with this subgroup of hypomyelinating disorders.
authors.affiliation: Max-Delbrueck-Center for Molecular Medicine, Berlin-Buch, Germany.
authors.forename: Nico
authors.initials: N
authors.lastname: Ruf
authors.forename: Mara
authors.initials: M
authors.lastname: Martelli
authors.forename: Bernhard
authors.initials: B
authors.lastname: Weschke
authors.forename: Birgit
authors.initials: B
authors.lastname: Uhlenberg
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D005190:Family; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D018991:Myelin Proteolipid Protein / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D000076104:Oligodendrocyte Transcription Factor 2; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics*; D010641:Phenotype
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D008565:Membrane Proteins; D018991:Myelin Proteolipid Protein; D009419:Nerve Tissue Proteins; D000076104:Oligodendrocyte Transcription Factor 2; C405707:OLIG1 protein, human; C405708:OLIG2 protein, human; C472930:PLP1 protein, human