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
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Tuberous Sclerosis
/
Frameshift Mutation
/
Diagnosis
/
Diagnostic Errors
/
Epilepsy
/
Tuberous Sclerosis Complex 1 Protein
/
Tuberous Sclerosis Complex 2 Protein
/
Genetics
Type of study:
Diagnostic study
Limits:
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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