一例皮质下带状灰质异位伴癫痫患者的DCX基因突变分析

Analysis of DCX gene mutation in a patient featuring X-linked subcorticai laminar heterotopia and epileps~

目的对1例皮质下带状灰质异位伴癫痫患者进行Doublecortin（DCX）基因突变检测。方法提取患者外周血基因组DNA，用PCR扩增其DCX基因所有外显子并测序，用PolyPhen-2软件进行致病突变分析。结果发现患者DCX基因第6外显子存在1个新生错义突变C．971T〉C（P．Phe324Ser），该突变为杂合突变。PolyPhen2分析其极可能为致病位点。结论明确了1例皮质下带状灰质异位伴癫痫患者DCX基因的致病突变，这将有助于遗传咨询及产前诊断。

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-linked subcortical laminar heterotopia has been established, which may facilitate diagnosis and genetic counseling of patients featuring X-SCLH.