A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene.
10.3760/cma.j.cn511374-20200211-00072
- Author:
Yuping NIU
1
,
2
,
3
;
Sexin HUANG
;
Peiwen XU
;
Jie LI
;
Ming GAO
;
Xiaowei CHEN
;
Hongxia CHU
;
Yuan GAO
Author Information
1. Center for Reproductive Medicine Research, Shandong University
2. National Research Center for Assisted Reproductive Technology and Reproductive Genetics
3. 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.
