Microduplication at 12q24.12 in a child with drug-resistant epilepsy and developmental delay

Abstract

Introduction: It was shown that the pathogenic CNV are often associated with intellectual disability, neurological and neuromuscular diseases. However, the clinical significance of novel CNV is not always unambiguous. We report on 2-year-old male patient with drug-resistant epilepsy, in whom a 125 kb microduplication at 12q24.12 of maternal origin was detected by aCGH. Patient has marked physical and mental developmental delay, neuromotor retardation, and dysmorphic features. Materials and Methods: A 125 kb microduplication at 12q24.12 was detected by aCGH (8 x 60K, Agilent Technologies). Microduplication origin was analyzed by Real-Time PCR. Reaults: Affected region contains three genes: ACAD10 , which is expressed in fetal brain, MAPKAPK5 , which is involved in neurological processes, and ALDH2 , which is engaged in neurodegeneration. Clinical features and the genes content are important to further delineation of the 12q24.12 microduplication phenotype.