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.
Artigo
em Chinês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Esclerose Tuberosa
/
Mutação da Fase de Leitura
/
Diagnóstico
/
Erros de Diagnóstico
/
Epilepsia
/
Proteína 1 do Complexo Esclerose Tuberosa
/
Proteína 2 do Complexo Esclerose Tuberosa
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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