Figure 2.

Family pedigrees of our cases and all the reported pathogenic variants mapped on the FOXRED1 gene structure. (A) Two patients from unrelated families in our study both harbored compound heterozygous mutations in the FOXRED1 gene. (B) The FOXRED1 gene comprises 11 exons, which are illustrated in blue. The pathogenic variants identified in this study are illustrated on the upper side of the exons with novel variants highlighted in bold; other previously reported variants are on the lower side.