Figure 2.

Pedigrees, photographs, and brain imaging of individuals with candidate disease-causing DHX9 variants

Pedigrees, DHX9 genotypes, and representative brain MRIs of individuals with NDDs are shown above the black line. Note that family 3 and family 12 share the recurrent allele c.3497G>C (p.Arg1166Pro). Individuals, genotypes, and representative clinical images and leg-muscle MRIs of individuals with CMT are shown below the black line. The yellow arrow indicates a thin corpus callosum. Red arrows indicate cerebellar atrophy. Yellow arrowheads show enlargement of the ventricles, and yellow asterisks (brain MRI, second image from the left) show reduced white-matter volume. The photograph shows the pes cavus and hammer-toe deformity in family 15, affected by CMT. Yellow asterisks (leg MRI) highlight fatty infiltration of the lower-leg musculature, consistent with CMT. Black pedigree symbols indicate NDDs, whereas gray pedigree symbols indicate CMT. Individuals for whom limited clinical details were available were excluded from the figure (see supplemental notes).