Fig. 1

ZNF445 truncating variant identified in patient 1. a Structure of the ZNF445 protein and the position of the c.2803C>T (p.Gln935*) variant. The variant is predicted to produce a truncated ZNF445 protein missing two ZF domains. SCAN: SRE-ZBP, CTfin51, AW-1 and Number 18 cDNA; KRAB: Krüppel-associated box; and ZF: zinc finger. b Electrochromatograms showing homozygosity for the variant in patient 1 and heterozygosity for the variant in the parents (red asterisks). This variant is completely absent from public and in-house databases utilized in this study and is predicted to have high pathogenicity. c Quantitative reverse-transcriptase PCR analysis by the Taqman methods (ThermoFisher Scientific), using probe for ZNF445 (Hs00738798,) and GAPDH (4326317E). d Western blot findings showing the production of a truncated ZNF445 protein by a vector with variant ZNF445 cDNA (c.2803C>T)