Fig. 1

Pedigree, audiogram, chromatogram, amino acid conservation and protein modeling data of multiplex family RW.KG.SFS_.09. A Two-generation pedigree suggestive of an incomplete penetrance autosomal dominant mode of inheritance of the Cornelia de Lange syndrome. The black arrow indicates the proband. B Air conduction of pure tone audiometry of the affected brother and sister showing bilateral profound HI. C Photo of the affected female showing mild hypertelorism. D Chromatograms of Sanger sequencing of the missense TRMT61 A variant in the TRMT61 A gene [NM_152307.3:c.665 C > T p.(Ala222 Val)] and the reference allele (indicate the segregation on the pedigree). The position of the nucleotide change is highlighted in blue. E Evolutionary conservation of the TRMT61 A: p.(Ala222 Val) variant position (indicated by the red asterisk). F (1) Wild type, (2) Mutant, showing major structural changes (Black boxes). C/T, heterozygous mutant allele; T/T, homozygous mutant allele; Hom Mut, homozygous mutant for the variant allele; Het Ref, heterozygous reference allele