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Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report
Daniel Halperin1, Aviad Sapir1, Ohad Wormser1
1The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Neurogenetics
|June 4, 2020
Summary
Mutations in myotubularin-related protein 2 (MTMR2) cause Charcot-Marie-Tooth type 4B1 (CMT4B1) neuropathy. A novel MTMR2 mutation was identified in siblings with this rare demyelinating disease.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Charcot-Marie-Tooth type 4B1 (CMT4B1) is a rare, severe, early-onset demyelinating neuropathy.
- Mutations in myotubularin-related protein 2 (MTMR2) are the known genetic cause of CMT4B1.
Observation:
- Three siblings from a consanguineous family presented with symptoms consistent with CMT.
- Clinical manifestations included hypotonia, reduced muscle tone, action tremor, dysmetria, areflexia, and skeletal deformities.
Findings:
- Whole-exome sequencing identified a novel homozygous c.336_337 insertion mutation in the MTMR2 gene.
- This mutation leads to a frameshift, likely resulting in a truncated MTMR2 protein.
Implications:
- This finding expands the known spectrum of MTMR2 mutations associated with CMT4B1.
- Further research into MTMR2-related neuropathies is supported by these observations, aiding in understanding disease pathogenesis.
