title: A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
abstract: Mutations in the myotubularin-related protein 2 gene on chromosome 11q22 are known to cause autosomal recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. We screened the coding region of the myotubularin-related protein 2 gene in a Turkish consanguineous Charcot-Marie-Tooth disease family compatible with linkage to chromosome 11q22. A homozygous cytosine to thymine missense mutation at nucleotide position 847, resulting in an amino acid substitution of arginine to tryptophan at codon 283, was detected in exon 9 of the MTMR2 gene. This is the second homozygous missense mutation associated with recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths.
authors.affiliation: Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), Antwerp, Belgium.
authors.forename: Eva
authors.initials: E
authors.lastname: Nelis
authors.forename: Sevim
authors.initials: S
authors.lastname: Erdem
authors.forename: Ersin
authors.initials: E
authors.lastname: Tan
authors.forename: Ann
authors.initials: A
authors.lastname: Löfgren
authors.forename: Chantal
authors.initials: C
authors.lastname: Ceuterick
authors.forename: Peter
authors.initials: P
authors.lastname: De Jonghe
authors.forename: Christine
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: Vincent
authors.initials: V
authors.lastname: Timmerman
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloglu
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D002648:Child; D002851:Chromatography, High Pressure Liquid; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009186:Myelin Sheath / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D017422:Sequence Analysis, DNA; D014421:Turkey
chemical_list: C408986:MTMR2 protein, human; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor