[Strategies for clinical and molecular diagnosis of Charcot-Marie-Tooth 1A among Mexican patients].
BACKGROUND
Charcot-Marie-Tooth (CMT) is the most common inherited disorder of the human peripheral nerve. The mos tfrequent subtype, CMT1A, is associated with duplication of approximately 1.5 Mb fragment in 17p11-p12, that includes the PMP22 gene.


OBJECTIVE
The aim of this study was to describe different strategies used for clinical and molecular CNT1A diagnoses among patients attending the National Rehabilitation Institute of Mexico (INR).


METHODS
17 patients had clinical and electrophysiological features compatible with CMT1. A molecular study using capillary electrophoresis (CE) was performed and a PMP22 gene duplication was detected


RESULTS
Clinical, biochemical and electrophysiological studies constituted the inclusion criteria to establish a CMT1 diagnosis. With CE the duplication of the PMP22 gene was observable and we established a possible CMT1A diagnosis in seven patients. All duplications detected by capillary electrophoresis were corroborated using FISH.


CONCLUSIONS
CE is a feasible and reliable method to detect PMP22 gene duplication. Using different clinical, electrophysiological and molecular strategies in this patient population allowed us to establish an accurate diagnosis and offer suitable genetic counseling.
Hernández-Zamora
Edgar
E
Servicio de Genética, Instituto Nacional de Rehabilitación, Deleg. Tlalpan, México DF, México edghernandez@inr.gob.mx
Arenas-Sordo
Maria de la Luz
Mde L
Escobar-Cedillo
Rosa Elena
RE
González-Huerta
Norma Celia
NC
Leyva-García
Norberto
N
Maldonado-Rodríguez
Rogelio
R
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008800:Mexico; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques / Q000379:methods; D011446:Prospective Studies