A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene.
10.3760/cma.j.cn511374-20200211-00072
- VernacularTitle:TSC2基因c.2355+1G>C变异致轻型结节性硬化症一例
- Author:
Yuping NIU
1
;
Sexin HUANG
;
Peiwen XU
;
Jie LI
;
Ming GAO
;
Xiaowei CHEN
;
Hongxia CHU
;
Yuan GAO
Author Information
1. Center for Reproductive Medicine Research, Shandong University; National Research Center for Assisted Reproductive Technology and Reproductive Genetics; Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, Shandong 250001, China. gaoyuan@sduivf.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Mutation;
Pregnancy;
RNA Splicing/genetics*;
Tuberous Sclerosis/genetics*;
Tuberous Sclerosis Complex 1 Protein/genetics*;
Tuberous Sclerosis Complex 2 Protein/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(6):553-556
- CountryChina
- Language:Chinese
-
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.
