Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.

Abstract

Charcot-Marie-Tooth type 4B (CMT4B), an autosomal recessive demyelinating neuropathy characterized by focally folded myelin sheaths in the peripheral nerve, has been associated with mutations in the gene encoding myotubularin-related protein 2, MTMR2, on chromosome 11q22. To investigate whether mutations in MTMR2 may also cause different forms of CMT, we screened 183 unrelated patients with a broad spectrum of CMT and related neuropathies using denaturing high-performance liquid chromatography. We identified four frequent and three rare exonic variants; two of the rare variants were identified in two unrelated patients with congenital hypomyelinating neuropathy and not in the normal controls. Our results suggest that loss-of-function mutations in MTMR2 are preferentially associated with the CMT4B phenotype.

• Authors: A Bolino, L J Lonie, M Zimmer, C F Boerkoel, H Takashima, A P Monaco, J R Lupski
• Journal: Neurogenetics (Neurogenetics) Vol. 3 Issue 2 Pg. 107-9 (Mar 2001) ISSN: 1364-6745 [Print] United States
• PMID: 11354824 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Protein Isoforms
• MTMR2 protein, human
• Protein Tyrosine Phosphatases
• Protein Tyrosine Phosphatases, Non-Receptor

Topics

• Amino Acid Substitution
• Charcot-Marie-Tooth Disease (classification, genetics)
• Chromatography, High Pressure Liquid
• Chromosome Mapping
• Chromosomes, Human, Pair 11
• Exons
• Genetic Variation
• Homozygote
• Humans
• Mutation
• Point Mutation
• Polymerase Chain Reaction
• Protein Isoforms (chemistry, genetics)
• Protein Tyrosine Phosphatases (chemistry, genetics)
• Protein Tyrosine Phosphatases, Non-Receptor