Figure 2.

Sanger sequencing analysis and Schematic representations of protein structures. (a), Sanger sequencing analysis of CASZ1 in the patient and his parents. The arrows indicated the mutated nucleotides. The patient carries a de novo heterozygous frameshift mutation (c.2443_2459delGTGGGCACCCCCAGCCT) in CASZ1. (b), schematic of the full‐length CASZ1b protein and V815Pfs*14‐mutant CASZ1 protein structures. NH2 means amino terminus; CID, CHD5‐interacting domain; COOH, carboxyl terminus; NLS, nuclear location signal; ZF, zinc finger