case_images: PMC11084984_01
case_images: TTC37 variations in this pedigree: The father carries a heterozygous variant of c.1708C>T. The mother has a c.3342-9T>G heterozygous variant. Two siblings are non-carriers. The patient has the compound heterozygous variations in TTC37: c.1708C>T and c.3342-9T>G.
case_images: 10.1177_2050313X241248393-fig1.jpg
case_images: PMC11084984_01_10.1177_2050313X241248393-fig1.jpg
case_images: fig1-2050313X241248393
case_images: According to the American College of Medical Genetics(ACMG) variant rating guidelines and ClinGen expert recommendations, c.1708C>T (p.R570X) was rated as a pathogenic variant (PVS1 + PM2_Supporting + PM3_Strong) and c.3342-9T>G was rated as a pathogenic variant (PM2_ Supporting+PM3 +PSV1 RNA) (Figure 1).