Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy / 中华医学遗传学杂志

ABSTRACT

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