[Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy]
Wen Li1, Mei-pin Zhang, Zhong-jun Hou
1Institute of Neuroscience, the Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, People's Republic of China.
Abstract
Objective:
To detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy.
Methods:
Mutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software.
Results:
A de novo missense mutation c.971T>C (p.Phe324Ser) was discovered.
Conclusion:
A diagnostic method for X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.
