PMC8586452_01
Sanger sequencing results of LAMA2 exon 12 for the proband (A), his mother (B) and father (C) and exon 65 for the proband (D), his mother (E) and father (F). The proband were found to have two pathogenic variants s. 1755del and c. 9253C> T. One pathogenic variant s 1755del was identified in the mother. The father is presumed to have the pathogenic c.9253C>T variant in mosaic form.
fgene-12-686800-g002.jpg
PMC8586452_01_fgene-12-686800-g002.jpg
F2
MPS results of LAMA2 exon 65 for the proband (A) and his father (B-D). B - genomic DNA extracted from peripheral blood lymphocytes. C - genomic DNA extracted from the buccal epithelium. C - genomic DNA extracted from the father's semen.
fgene-12-686800-g003.jpg
PMC8586452_01_fgene-12-686800-g003.jpg
F3
Then we re-analyzed the father's MPS data at the chr6:129837376 coordinate, which corresponds to c.9253C>T, and found the variant in mosaic form on 7% of all reads (24 out of 353) (Figure 3). The mutant clone prevalence in peripheral blood lymphocytes was presumed to be 14%.