Fig. 1

Likely pathogenic variants in ZNF142 are associated with syndromic neurodevelopmental phenotypes in four unrelated pedigrees. (a–d) Pedigrees of four families with syndromic neurodevelopmental symptoms segregating in an autosomal recessive pattern of inheritance. Double lines in pedigrees indicate consanguinity. Filled and unfilled circles/squares represent affected and unaffected individuals respectively, while circle/squares with diagonal lines indicate deceased individuals. Genotypes are represented as either WT/WT (wild type), MX/WT (heterozygous) or MX/MX (homozygous) for individuals with available genotypes. (e–h) Representative chromatograms are shown for each variant. Vertical arrows indicate variant position. (i) Top: schematic of the ZNF142 locus with exons 6–9 harboring likely pathogenic variants. Boxes, exons; black line, introns; white, untranslated regions; blue shaded boxes, coding regions. Bottom: schematic representation of ZNF142 protein; gray rectangles represent predicted C₂H₂-type domains. Truncating alterations are indicated with black lollipops; missense variants are indicated with salmon-colored lollipops.