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
;
Zicen DU
;
Chunshui YU
Author Information
1. Department of Dermatology, Suining Central Hospital, Suining, Sichuan 629000, China. 373405810@qq.com.
- Publication Type:Journal Article
- MeSH:
Diagnostic Errors;
Epilepsy;
diagnosis;
genetics;
Female;
Frameshift Mutation;
Humans;
Tuberous Sclerosis;
diagnosis;
genetics;
Tuberous Sclerosis Complex 1 Protein;
genetics;
Tuberous Sclerosis Complex 2 Protein;
genetics
- 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.
