Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy

Abstract

To detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy. Mutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software. A de novo missense mutation c.971T>C (p.Phe324Ser) was discovered. A diagnostic method for X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.