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Acta Myol. 2009 July; 28(1): 47.
PMCID: PMC2859663

P-8. Molecular genetic studies of Charcot-Marie-Tooth disease in the Cypriot population

Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy (HMSN) is one of the most common inherited neuromuscular disorders, affecting approximately 1 in 2,500 people. According to electrophysiological criteria, HMSN is classified into two main subgroups: demyelinating type (HMSN I or CMT1), characterized by decreased motor nerve conduction velocities (MNCV), and axonal type (HMSN II or CMT2) that is characterized by normal or slightly reduced MNCV(s). Further subdivisions within those two types are based on the inheritance pattern and the results of molecular genetic investigations. Inheritance in CMT can be autosomal dominant (AD), X-linked, or autosomal recessive (AR). CMT is associated with more than 30 loci and about 20 causative genes are known thus far. We performed clinical, neurophysiological and molecular genetic studies in thirty Cypriot families with CMT. The molecular genetic investigation revealed thirteen families with the most frequent mutation the PMP22 duplication, three families with the S22F mutation in the PMP22 gene, four families with CX32 gene mutations, two families with different MPZ gene mutations and one family with an MFN2 gene mutation. Seven families were excluded from the common CMT genes and are still pending molecular genetic diagnosis and one family is under further investigation for a candidate novel MFN2 mutation. In conclusion, the PMP22 duplication which is the most frequent CMT mutation worldwide is also the most frequent CMT mutation in the Cypriot population. The majority (five out of seven) of the other mutations identified in the Cypriot population are novel CMT gene mutations that have not thus far been reported in other populations.

Articles from Acta Myologica are provided here courtesy of Pacini Editore