FIGURE 1.

PHIP variants associated with Chung-Jansen syndrome identified in the present cohort and/or described in the literature (A) Schematic representation of PHIP exons (top; 1–40) and its encoded protein (bottom) showing the identified variants relative to the protein domains/regions. Variants identified in the present cohort are shown above, and the described in the literature are shown below. Variants are labelled with the nomenclature based on changes at protein levels except for splicing variants, for which coding DNA sequence nomenclature was used (B) Schematic representation of the deletions encompassing the PHIP gene (blue) identified in the present cohort (red) and in the literature (light red). Deletion sizes are shown. White arrows identify the direction of PHIP transcription. Genes in dark grey are, as PHIP, OMIM morbid genes (C) Comparison of the distribution of the PHIP variants identified in the present cohort and/or in the literature with the variants reported in gnomAD. Number of individuals with gnomAD variants were plotted for each combined codon. gnomAD variants were stratified by damage potential (based on variant type and CADD score).