Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2021
[Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex].
СтатьяНазвание и аннотация: Перевод в очереди
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Huang Chao, Zhang Qin, Xue Ying, Li Hong, Wang Ting
Аннотация
OBJECTIVE: To explore the genetic basis for Chinese pedigree affected with tuberous sclerosis complex (TSC).
METHODS: The proband and his family members were subjected to Sanger sequencing for variants of the TSC1 and TSC2 genes.
RESULTS: The proband was found to harbor a c.2837+1dupG splicing variant at a donor site of the TSC2 gene. The same variant was not found among his family members and the fetus during his mother's subsequent pregnancy.
CONCLUSION: The c.2837+1dupG splicing variant of the TSC2 gene has probably predisposed to the TSC in this pedigree. Above finding has enriched the spectrum of pathogenic variants associated with this disease.
METHODS: The proband and his family members were subjected to Sanger sequencing for variants of the TSC1 and TSC2 genes.
RESULTS: The proband was found to harbor a c.2837+1dupG splicing variant at a donor site of the TSC2 gene. The same variant was not found among his family members and the fetus during his mother's subsequent pregnancy.
CONCLUSION: The c.2837+1dupG splicing variant of the TSC2 gene has probably predisposed to the TSC in this pedigree. Above finding has enriched the spectrum of pathogenic variants associated with this disease.