Figure 1

Figure 1

Pedigrees and genetic findings of patients with GTF3C3 variants. (A) Pedigrees of the three families. (B) Homozygosity mapping using the automap tool showing the identified regions of homozygosity on chromosome 2 encompassing the GTF3C3 gene in Families 1 and 2, in comparison to Family 3. (C) Schematic diagram showing the location of the identified GTF3C3 variants in this study (in red) and those described previously (in black) and their domains. (D) Portions of the sequencing electropherogram showing the segregation of the GTF3C3 variants in the three families. (E) The conservation of the three new missense variants p.Cys172Gly, p.Val427Phe and p.Ala509Thr.