Fig. 3: RNU4-2 variants in the T-loop and stem III associate with different phenotype severity. | Nature Genetics

Fig. 3: RNU4-2 variants in the T-loop and stem III associate with different phenotype severity.

From: Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Fig. 3: RNU4-2 variants in the T-loop and stem III associate with different phenotype severity.

a, PCA of 44 phenotypic features in 143 patients showing the separation of variants with respect to their location within distinct U4:U6 domains. Labels with the nucleotide change appear for variants other than n.64_65insT. RNU4-2 variants are colored according to their location within the distinct U4:U6 domains; stem I (n = 1) in light blue, quasi-pseudoknot (n = 119) in orange, RBM42 interaction region (n = 4) in blue and stem III (n = 19) in green. Triangles, P (n = 128) variants; squares, LP (n = 15) variants. b, Contributions of the clinical features to the PCA. c, Comparative analysis of 14 phenotypes related to RNU4-2 n.64_65insT and n.76C>T variants. The P values were calculated using Fisher’s exact tests (two-sided; 2 × 2, 2 × 3 or 2 × 4 contingency tables) to compare 41 phenotypes between patients with n.64_65insT variants and those in the other three variant groups. Multiple comparisons were adjusted for using Bonferroni correction. The percentage of patients with the feature, followed by the numerator (number of affected patients) and denominator (total assessed), is shown directly in the bars. Full details of all tests and patient numbers can be found in Supplementary Table 8.

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