1.
Chinese Journal of Medical Genetics
;
(6): 1019-1021, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-796471
RESUMEN
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.