Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy

Abstract

Chromosomal abnormalities involving deletions and duplications are known to cause severe developmental disorders, including mental retardation, dysmorphism, and seizures, in children. As the technique of array-based comparative genomic hybridization is being applied more frequently in the diagnostic evaluation of children with developmental disorders, novel pathologic chromosomal abnormalities are being identified. We report the case of a 9-year-old girl with a history of pervasive developmental disorder, growth delay, mild dysmorphic features, and intractable primary generalized epilepsy with a de novo microdeletion of approximately 0.73-0.94 Mb within chromosome 15q26.1. A much larger (5 Mb) but overlapping microdeletion has been previously reported in a 30-month-old child with similar phenotype including intractable myoclonic epilepsy, growth delay, and dysmorphic features. This leads us to propose that a potential candidate gene or genes within the deleted region involved in the pathogenesis of some forms of generalized intractable epilepsy, previously considered to be idiopathic.