Identification of a novel splice site variant in the GATA3 gene in a Chinese patient with hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome, and a review of genotype-phenotype spectrum

Supplemental Figure 1. Mean age of diagnosis for each HDR defect based on mutation type. (a) Diagnosis of HDR defects occurred at a earlier age in the 192 patients with missense mutations (n = 42), compared to patients with null mutations (which include frameshift, splice-site, and/or nonsense mutations, n = 125), as well as those with gross deletions (del, n = 25) of the GATA3 gene. (b) Among the 144 patients with null or gross deletion mutations, they were further categorized into four groups: ZnF1+ZnF2 (Z1+Z2, n = 105), ZnF2 (Z2, n = 16), and others (n = 23). The data were analyzed based on different mutation types (c) and affected regions (d), considering the reported age of diagnosis (when available) for hypoparathyroidism (H), deafness (D), and renal defects (R). Analysis performed with R version 4.2.1. Differences among the groups were assessed using Kruskal-Wallis analysis of variation, followed by Dunn’s multiple comparisons test (*p < 0.05, **p < 0.01, ***p < 0.001, ****p < 0.0001; ns, not significant).