RESUMEN
There are only two reports on epileptic patients associated with microduplication of 2q. We found a de novo duplication of chromosome 2q24.2q24.3 in another infant with neonatal epilepsy. The patient had refractory focal seizures since the third day of life. Her seizures were refractory against phenobarbital and levetiracetam, but were controlled by valproate. Array comparative genomic hybridization revealed a 5.3-Mb duplication of 2q24.2q24.3, where at least 22 genes including a cluster of voltage-gated sodium channel genes (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A) and one noncoding RNA are located.
Asunto(s)
Duplicación Cromosómica/genética , Cromosomas Humanos 1-3/genética , Epilepsia/genética , Enfermedades del Recién Nacido/genética , Anticonvulsivantes/uso terapéutico , Duplicación Cromosómica/fisiología , Cromosomas Humanos 1-3/fisiología , Epilepsia/congénito , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Recién Nacido , Enfermedades del Recién Nacido/tratamiento farmacológico , Cariotipificación , Convulsiones/congénito , Convulsiones/genética , Canales de Sodio/genéticaRESUMEN
Presenilin-2 (PS-2) was suggested to be localized on 1q31-42 based on linkage analysis and cDNA cloning. The final identification of PS-2 as the causal gene for early-onset familial Alzheimer's disease in Voga-German pedigrees was concluded based on the point mutation found in the candidate cDNA isolated from this familial AD. We present evidence of its physical genome mapping of PS-2 on chromosome 1q42.1 by fluorescence in situ hybridization method.