Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid ‐capture next‐generation sequencing
ConclusionThe fetuses assessed in this study carried low-level and somatic mosaic variants, and CR tissue from one fetus exhibited a second-hit variant. Heterozygous gonadal variants can exist in patients with low-level mosaicism. Combining NGS with ddPCR improves the accuracy of prenatal TSC diagnosis.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Siyu Wang,
Hairui Sun,
Jianbin Wang,
Xiaoyan Gu,
Lu Han,
Yuduo Wu,
He Yan,
Ling Han,
Hongjia Zhang,
Yihua He Tags: ORIGINAL ARTICLE Source Type: research