Figure 1.

Variants in ZBTB24. (a) Schematic of ZBTB24 mRNA and protein. ZBTB24 contains a BTB and AT‐hook domain located in exon 2, and 8 C2H2 zinc finger domains that span from exon 2 to 7. ZBTB24/ICF2 nonsense variants and (bottom) missense variants with cDNA and amino acid changes. (b) Schematic of ZBTB24 mRNA and protein. gnomAD variants (black) including cDNA and amino acid changes, as well as allele frequencies, are shown. Fre: allele frequency. (bottom) Variants from undiagnosed disease network (gray and italic), CAKUT (gray) and ICF2 patients (black) with cDNA and amino acid changes. CAKUT, congenital anomalies of the kidneys and urinary tract; ICF, immunodeficiency, centromeric instability, facial anomalies