Detection of subtelomeric rearrangements due to MLPA in paediatric patients with refractory epilepsy in Colombia: the role of the CHL1 gene in pharmacoresistance
*Correspondencia: Dr. Harvy Mauricio Velasco Parra. Instituto de Genética. Universidad Nacional de Colombia. Oficina 217. Carrera 45, n.º 26-85. Bogotá, Colombia.
E-mail: hmvelascop@unal.edu.co
INTRODUCTION Epilepsy is a neurological disorder characterised by a predisposition to the recurrence of seizures of distinct causation and with variable clinical manifestations. Up to 40% of patients do not manage to control their seizures with the first anticonvulsive drug and the addition of a second pharmaceutical affords control in only another 11%. Given the aetiological heterogeneity of pharmacoresistance, it has been suggested that the presence of genomic disorders in patients with refractoriness could be elements worthy of analysis when it comes to estimating the alteration in the pharmacokinetic or pharmacodynamic profiles of these patients.
AIM To detect the presence of subtelomeric rearrangements in Colombian paediatric patients with refractory epilepsy.
PATIENTS AND METHODS The multiplex ligation-dependent probe amplification (MLPA) technique was used to evaluate the presence of cytogenetically non-visible chromosome aberrations in subtelomeric regions of 113 patients diagnosed with refractory epilepsy from three national referral centres in Colombia.
RESULTS Subtelomeric chromosome aberrations were detected in 0.9% of patients corresponding to a duplication of locus 3p26.3 in gene CHL1.
CONCLUSIONS This study suggests the use of the MLPA methodology to detect subtelomeric rearrangements that may be associated with phenotypes of refractoriness in epileptic patients.
Objetivo Detectar la presencia de rearreglos subteloméricos en pacientes pediátricos colombianos con epilepsia refractaria.
Pacientes y métodos Se utilizó la técnica de amplificación múltiple de sondas dependiente de ligamiento (MLPA) para evaluar la presencia de aberraciones cromosómicas no visibles citogenéticamente en las regiones subteloméricas de 113 pacientes diagnosticados con epilepsia refractaria provenientes de tres centros de referencia nacional en Colombia.
Resultados Se detectaron aberraciones cromosómicas subteloméricas en el 0,9% de los pacientes correspondientes a una duplicación del locus 3p26.3 en el gen CHL1.
Conclusión Este estudio plantea el uso de la metodología de MLPA para la detección de rearreglos subteloméricos que puedan asociarse con fenotipos de refractariedad en pacientes epilépticos.
