[Identification of a novel TSC2 gene variant in a patient with tuberous sclerosis complex].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(9): 877-879, 2021 Sep 10.
Article
in Zh
| MEDLINE
| ID: mdl-34487535
ABSTRACT
OBJECTIVE:
To explore the genetic basis for a patient diagnosed with tuberous sclerosis complex (TSC).METHODS:
Peripheral blood samples of the patient and his parents were collected for the extraction of genomic DNA. Next generation sequencing (NGS) was carried out to detect potential variant, and the result was verified by Sanger sequencing.RESULTS:
The patient was found to harbor a heterozygous c.1053delG (p.Glu352SerfsX10) frameshifting variant of the TSC2 gene. The same variant was not found in his unaffected parents and 100 unrelated healthy controls. Based on the American College of Medical Genetics and Genomics guidelines, the variant was predicted to be pathogenic (PVS1+PS2+PM2).CONCLUSION:
The novel c.1053delG (p.Glu352SerfsX10) frameshifting variant of the TSC2 gene probably underlay the TSC in this patient.
Full text:
1
Database:
MEDLINE
Main subject:
Tuberous Sclerosis
Type of study:
Diagnostic_studies
/
Guideline
Limits:
Humans
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2021
Type:
Article
Affiliation country:
China