Figure 1

Figure 1

Genetic analysis of two families with KDM5C variants. (A) Pedigree of Family 1 carrying the KDM5C variant (c.3019del). Circles and squares represent females and males, respectively. The proband is indicated by an arrow. Fully shaded symbols denote affected individuals with ID, while half-shaded symbols indicate heterozygous carriers. “WT” and “N” indicate KDM5C gene without the variant. NT, is for “not available to be tested”. (B) Sanger sequencing chromatograms of Family 1 showing the c.3019del variant. The black box highlights the affected nucleotide position. (C) Pedigree of Family 2 carrying the KDM5C variant (c.782-2A>T), annotated as in (A). (D) Sanger sequencing chromatograms of Family 2 showing the c.782-2A>T variant, with the black box marking the altered nucleotide.