Genetic Study of Demyelinating form of AR-CMT disease in a Turkish Family

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Int J Neurosci. 2009;119(8):1179-1189.

Genetic Study of Demyelinating form of Autosomal-Recessive Charcot-Marie-Tooth

Diseases in a Turkish Family.

Sahin-Calapoglu N, Soyoz M, Calapoglu M, Ozcelik N.

Department of Medical Biology, Suleyman Demirel University, Faculty of Medicine,

Isparta, Turkey.

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous

group of inherited peripheral motor and sensory neuropathies characterized by

distal muscle weakness atrophy predominantly in the lower extremities,

diminished or absent deep tendon reflexes, distal sensory loss and skeletal

deformities. Mode of inheritance could be either autosomal dominant, autosomal

recessive, or X-linked.

The autosomal-recessive subgroup of CMT (AR-CMT) neuropathies is heterogeneous

as well. To date, nine demyelinating loci have been implicated in CMT4 and seven

genes have been identified. It has been screened in this study for the presence

of mutations in the coding region of GDAP1 and genetic linkage analyses of

CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F loci were tested in a Turkish

family presenting recessively inherited form of CMT disease characterized by

severe motor weakness.

We did not find any mutations in GDAP1 and genetic linkage excluded for the six

demyelinating genes loci (CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F). Our

findings indicate that another locus may be associated with AR-CMT disease.