Leyva-García N, González Huerta NC, Hernández Zamora E, Kofman S, Bautista Tirado MT, Gálvez Rosas A, Cuevas-Covarrubias SA

Language: Spanish
References: 16
Page: 187-191
PDF size: 82.70 Kb.

ABSTRACT

Charcot-Marie-Tooth (CMT) is an entity with genetic heterogeneity. It has a prevalence of 1 in 2,500 NB and classifies in several groups according to the clinical and molecular characteristics. About nine loci have been associated with this type of neuropathies. CMT is an autosomal dominant neuropathy and is most caused by duplication of PMP22 gene on chromosome 17p11.2-p12. In the present study we analyzed 12 CMT1 non-related subjects through FISH of the PMP22 region. We found in 3 cases the duplication of PMP22 corroborating the CNT1 diagnosis. The absence of the duplication of the PMP22 region in the rest of patients, remarks the importance of establishing the molecular studies to correctly diagnose the genetic entities and offer and adequate genetic counseling.

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