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

Marco Henneke, Lars Erik Wehner, Hans Christian Hennies, Natalie Preuß, Jutta Gärtner

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

LanguageEnglish
Pages156-158
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume128A
Issue number2
Early online date11 May 2004
DOIs
Publication statusPublished - 15 Jul 2004
Externally publishedYes

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Pelizaeus-Merzbacher Disease
Proteolipids
Mutation
Genes
Proteins
Phenotype
Gene Duplication
Oligodendroglia
Myelin Sheath
Brain

Cite this

Henneke, Marco ; Wehner, Lars Erik ; Hennies, Hans Christian ; Preuß, Natalie ; Gärtner, Jutta. / Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome. In: American Journal of Medical Genetics. 2004 ; Vol. 128A, No. 2. pp. 156-158.
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Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome. / Henneke, Marco; Wehner, Lars Erik; Hennies, Hans Christian; Preuß, Natalie; Gärtner, Jutta.

In: American Journal of Medical Genetics, Vol. 128A, No. 2, 15.07.2004, p. 156-158.

Research output: Contribution to journalArticle

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