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Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome

Item Type:Article
Title:Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome
Creators Name:Henneke, M. and Wehner, L.E. and Hennies, H.C. and Preuss, N. and Gaertner, J.
Abstract:"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.
Keywords:Leukodystrophy, M6b Gene, PLP1 Gene, Hypomyelination, Pelizaeus-Merzbacher Disease
Source:American Journal of Medical Genetics A
ISSN:1552-4825
Publisher:Wiley (U.S.A.)
Volume:128A
Number:2
Page Range:156-158
Date:15 July 2004
Official Publication:https://doi.org/10.1002/ajmg.a.30068
PubMed:View item in PubMed

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