Figure 2.

Comparative sequence alignments and Sanger sequencing electropherogram of two patients with de novo CSNK2A1 variants. (a) Comparative sequence alignments revealing that the two missense variants, H160R (right) and R80C (left), occur at evolutionarily conserved amino acids of the CK2α protein (black boxes). (b) Familial pedigrees. Affected individuals including patient 1 (right) and patient 2 (left) are represented by black circles; other unaffected family members are represented by white circles/squares. Family members who underwent whole-exome sequencing are marked by an asterisk (*). Sanger sequencing electropherograms and genotypes are shown for each family member examined. Wild-type alleles are represented by + and mutational locus is indicated by a red arrow.

CSNK2A1, casein kinase 2α subunit gene; CK2α, casein kinase 2α subunit.