Genetic diagnosis of a patient with long-time misdiagnosis of epilepsy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1019-1021, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-776753
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Esclerosis Tuberosa
/
Mutación del Sistema de Lectura
/
Diagnóstico
/
Errores Diagnósticos
/
Epilepsia
/
Proteína 1 del Complejo de la Esclerosis Tuberosa
/
Proteína 2 del Complejo de la Esclerosis Tuberosa
/
Genética
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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