Fig. 4

Genotype-phenotype correlation of ISOD

(A) Proportions of SUOX mutations in patients with typical and mild ISOD.

(B) Kaplan–Meier-estimated probabilities of SUOX mutations on disease onset risk according to age

(C) Correlations between SUOX mutations and comorbidities, including ectopia lentis, microcephaly, seizure, developmental delay, extrapyramidal symptoms, regression, and death. Asterisks indicate statistically significant changes

(D) Heatmap of SUOX mRNA expression normalized to ACTB in ocular tissues, brain tissues, and other organs. The housekeeping gene ACTB was used as the internal reference

ISOD, isolated sulfite oxidase deficiency; M, missense mutations; NF, nonsense /frameshift mutations