Fig. 1

Biallelic SUOX mutations identified in this study

(A) Brief overview of the enrollment process. One patient with congenital EL and biallelic SUOX mutations was identified

(B) Proportion of probands harboring biallelic SUOX mutations (marked by asterisks). Biallelic SUOX contributed to 0.76% of patients in the cohort and accounted for 3.45% of non-FBN1 mutations

(C) Genotype–phenotype co-segregation and protein conservation analysis. The pedigree diagram demonstrates that the identified SUOX mutations came from different alleles. The affected member is marked in black, and the proband is indicated by arrows. Sanger sequencing confirmed the compound heterozygosity. The affected amino acid, A69, is conserved in humans, chimpanzees, pigs, leopards, rats, and zebrafish, but not mice, while Y400 is shared by all of the above vertebrates

(D) SUOX protein diagram indicating the localization and effects of the existing mutations. The mutations identified in this study are marked in red

EL, ectopia lentis; NGS, next-generation sequencing