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.
Article
Dans Chinois
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Complexe de la sclérose tubéreuse
/
Mutation avec décalage du cadre de lecture
/
Diagnostic
/
Erreurs de diagnostic
/
Épilepsie
/
Protéine-1 du complexe de la sclérose tubéreuse
/
Protéine-2 du complexe de la sclérose tubéreuse
/
Génétique
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2019
Type:
Article
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