A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.

Eva Nelis, Sevim Erdem, Ersin Tan, Ann Löfgren, Chantal Ceuterick, Peter De Jonghe, Christine Van Broeckhoven, Vincent Timmerman, Haluk Topaloglu

Journal: Neuromuscular disorders : NMD 2003;12(9):869-73

PMID: 12398840

Full Text on Elsevier Science View on PubMed

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.

Address: Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), Antwerp, Belgium.

DOI: 10.1016/s0960-8966(02)00046-9

Link outs

Free resources

Medical:

https://medlineplus.gov/charcotmarietoothdisease.h...

Molecular Biology Databases:

Subscription / membership required

Full Text Sources:

https://linkinghub.elsevier.com/retrieve/pii/S0960...

MeSH Terms: Adolescent, Base Sequence, Charcot-Marie-Tooth Disease, Child, Chromatography, High Pressure Liquid, Chromosome Mapping, Chromosomes, Human, Pair 11, Exons, Female, Genes, Recessive, Homozygote, Humans, Male, Mutation, Missense, Myelin Sheath, Pedigree, Polymerase Chain Reaction, Polymorphism, Genetic, Protein Tyrosine Phosphatases, Protein Tyrosine Phosphatases, Non-Receptor, Sequence Analysis, DNA, Turkey