PMC8842678_01
PMC8842678_02
PMC8842678_03
Molecular characterization of a family with Andersen-Tawil syndrome. Sequence chromatogram showing the position of the c.413A>T transversion (NM_000891.2) that led to the p.(Glu138Val) missense variant. The variant was heterozygous in the proband (A) and her father (B). Sanger sequencing result of an unaffected control (C). Variants are annotated according to The Human Genome Variation Society nomenclature.
fped-09-790075-g0001.jpg
PMC8842678_03_fped-09-790075-g0001.jpg
F1
It was validated by Sanger sequencing (Figure 1A) and then confirmed diagnosed as ATS. Because a causative variant was identified in the proband, Sanger sequencing of the causative variant was also performed on her symptomatic father, and the same variant that was consistent with his history of periodic paralysis were identified (Figure 1B). Figure 1C shows the Sanger sequencing result of an unaffected control on this position.