PMC10067874_01
PMC10067874_02
Clustal W(1.83) multiple sequence alignment. The CSNK2B variants marked in red is highly conserved between species.
fped-11-967701-g001.jpg
PMC10067874_02_fped-11-967701-g001.jpg
F1
Neither parent has a similar disease or genetic mutation.Two amino acid residues for variant sites were highly conserved across species (Figure 1).
The variants in CSNK2B DNA sequence. 65 children with POBINDS caused by CSNK2B variants have been reported, with various mutation types, including missense, nonsense, splice site, start loss, frameshift, and in-frame duplication mutations. Our cases had two de novel variants. c.634_635del was a mosaic variant, c.142C > T was a nonsense mutation.
fped-11-967701-g002.jpg
PMC10067874_02_fped-11-967701-g002.jpg
F2
A total of 50 distinct CSNK2B mutations have been identified in 67 patients (Figure 2).