A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 553-556, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879624
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a patient with tuberous sclerosis complex.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from members of his family and 100 unrelated healthy controls. The proband was subjected to next-generation sequencing, and candidate variant was confirmed by multiple ligation-dependent probe amplification (MLPA) and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was carried out to determine the relative mRNA expression in the proband.@*RESULTS@#The patient was found to harbor a c.2355+1G>C splicing variant of the TSC2 gene. Sequencing of cDNA confirmed that 62 bases have been inserted into the 3' end of exon 21, which has caused a frameshift producing a truncated protein.@*CONCLUSION@#The novel splicing variant c.2355+1G>C of the TSC2 gene probably underlay the TSC in the proband. Above finding has expanded the variant spectrum of TSC2 and provided a basis for preimplantation genetic testing and/or prenatal diagnosis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Tuberous Sclerosis
/
RNA Splicing
/
Tuberous Sclerosis Complex 1 Protein
/
Tuberous Sclerosis Complex 2 Protein
/
Mutation
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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