Abstract | BACKGROUND: CASE PRESENTATION: We reported a sporadic case of a 32-year-old Han Chinese male diagnosed with TSC, whose spouse had a history of two spontaneous miscarriages and an induced abortion of a 30-week fetus identified with cardiac rhabdomyoma by ultrasound. A novel heterozygous missense variant in the TSC2 gene (Exon35:c.4511 T > C:p.L1504P) was identified in the male patient and the aborted fetus by next-generation sequencing, but not in his wife or both his parents. According to the ACMG/ AMP criteria, this variant was classified as a "likely pathogenic" variant. CONCLUSION: The novel TSC2:c.4511 T > C variant identified was highly likely associated with TSC and could potentially lead to adverse reproductive outcomes. IVF-ET and pre-implantation genetic diagnosis for TSC are recommended for this patient in the future to prevent fetal TSC.
|
Authors | Shunzhi He, Na Lv, Hongchu Bao, Xiong Wang, Jing Li |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 21
Issue 1
Pg. 180
(09 11 2020)
ISSN: 1471-2350 [Electronic] England |
PMID | 32917147
(Publication Type: Case Reports, Journal Article)
|
Chemical References |
- TSC2 protein, human
- Tuberous Sclerosis Complex 2 Protein
|
Topics |
- Adult
- Base Sequence
- Chromosome Banding
- Family Health
- Female
- Genetic Predisposition to Disease
(genetics)
- Heterozygote
- High-Throughput Nucleotide Sequencing
(methods)
- Humans
- Male
- Mutation, Missense
- Pedigree
- Tuberous Sclerosis
(diagnosis, genetics)
- Tuberous Sclerosis Complex 2 Protein
(genetics)
|