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

Alessandra Bolino, Lorne J. Lonie, Michael Zimmer, Cornelius F. Boerkoel, Hiroshi Takashima, Anthony P. Monaco, James R. Lupski

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)107-109
Number of pages3
JournalNeurogenetics
Volume3
Issue number2
DOIs
Publication statusPublished - 2001

Keywords

  • Charcot-Marie-Tooth disease
  • Denaturing high-performance liquid chromatography
  • Mutation
  • Protein phosphatase

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)

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