Genetic diagnosis of a patient with long-time misdiagnosis of epilepsy
10.3760/cma.j.issn.1003-9406.2019.10.017
- VernacularTitle: 一例被长期误诊为癫痫的结节性硬化症患者的基因诊断
- Author:
Linli LIU
1
;
Zhengzhong ZHANG
2
;
Zicen DU
2
;
Chunshui YU
1
Author Information
1. Department of Dermatology, Suining Central Hospital, Suining, Sichuan 629000, China
2. Department of Dermatology, the Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, China
- Publication Type:Clinical Trail
- Keywords:
Tuberous sclerosis;
Epilepsy;
TSC gene;
Genetic diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(10):1019-1021
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To identify pathogenic mutation of TSC1 and TSC2 genes in a patient with long-time misdiagnosis of epilepsy.
Methods:Peripheral blood samples and clinical data of the patient and her 2 parents were collected. Potential mutation of TSC1 and TSC2 genes were detected by direct sequencing.
Results:The patient had frequent episodes of epilepsy in addition with Shagreen patches for 10 years. A frame-shifting mutation c. 2509_2512delAACA was detected in exon 20 of the TSC1 gene. This same mutation was not found in her unaffected parents.
Conclusion:The recurrent frame-shifting mutation c. 2509_2512delAACA (p.Asn837ValfsX11) of the TSC1 gene probably underlies the disease in this patient.
