Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy.
- VernacularTitle:一例皮质下带状灰质异位伴癫痫患者的DCX基因突变分析
- Author:
Wen LI
1
;
Mei-pin ZHANG
;
Zhong-jun HOU
;
Tao ZENG
;
Bin TANG
;
Xiao-rong LIU
Author Information
- Publication Type:Case Reports
- MeSH: Agenesis of Corpus Callosum; diagnosis; genetics; Base Sequence; Brain; pathology; Child; Classical Lissencephalies and Subcortical Band Heterotopias; diagnosis; genetics; Electroencephalography; Epilepsy; diagnosis; genetics; Exons; Female; Humans; Magnetic Resonance Imaging; Microtubule-Associated Proteins; genetics; Mutation; Neuropeptides; genetics
- From: Chinese Journal of Medical Genetics 2013;30(1):74-78
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy.
METHODSMutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software.
RESULTSA de novo missense mutation c.971T>C (p.Phe324Ser) was discovered.
CONCLUSIONA diagnostic method for X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.
