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

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Item Type:	Article
Title:	Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome
Creators Name:	Henneke, M., Wehner, L.E., Hennies, H.C., 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
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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