A novel c.2747C>G (p.P916R) mutation in the KIF23 gene. (A) Exon structure of the KIF23 gene with DNA and protein sequence of the exon 21 where the mutation resides. (B) DNA sequence showing c.2747C>G mutation. (Upper) Wild type and (lower) c.2747C>G heterozygous mutations, with mutation position marked in black. (C) Phylogenetic alignment of partial KIF23 protein sequence.