PMC6842924_01
Genome browser views of the (A)
MLH1 gene showing sequence alignment around the region of the detected c.333_334delTC mutation and (B)
TP53 gene showing sequence alignment around the region of the detected c.847C > T mutation. (C) Lollipop scheme of the MLH1 gene, pinpointing the region of the detected mutation. (D) Lollipop scheme of the TP53 gene, pinpointing the region of the detected mutation.
fgene-10-00952-g001.jpg
PMC6842924_01_fgene-10-00952-g001.jpg
f1
Upon taking written and signed informed consent from the proband's legal guardians, gene panel sequencing revealed a novel heterozygous frameshift mutation c.333_334delTC; p.His112CysfsTer9 in the MLH1 gene and another known, but rare, heterozygous missense VUS c.847C > T; p.Arg283Cys in the TP53 gene ( Table 1 ;  Figure 1 ).
Sanger sequencing of (A)
MLH1 gene, pinpointing the presence or absence of the c.333_334delTC mutation in the patient and family members and (B)
TP53 gene, pinpointing the presence or absence of the c.847C > T mutation detected by in the patient and family members.
fgene-10-00952-g002.jpg
PMC6842924_01_fgene-10-00952-g002.jpg
f2
Sanger sequencing:we concluded that the TP53 mutation was inherited from the paternal side, while the MLH1 mutation was inherited from the maternal side. Sanger sequencing of a maternal cousin failed to detect the TP53 and MLH1 mutations ( Figure 2 ).