Fig. 1
Donor splice site mutation in the OXR1 gene leads to exon skipping and protein depletion. a Family pedigree with genotype of Chr8:107,758,095 G > C mutation in the OXR1 gene. b Brain MRI. Mid-sagittal T1 weighted images showing marked cerebellar atrophy in patient II- 4 at 6 years (left) and patient II-6 at 3 years and 4 months (middle), compared with the same view of a healthy control at 6-years (right). c Genomic structure of human OXR1 and the mutation site. The OXR1 gene is located on chromosome 8 and consists of 19 exons, reference to ENSG000001164830 (Hg19). Triangle in magenta, the mutation in the donor splicing site of exon 18 within TLDc domain (OXR1ΔEx18), affecting all identified human OXR1 isoforms. d cDNA sequence around the OXR1 mutation site of lymphoblasts from patient II-4 and healthy control. e Western blot analysis of OXR1 level in lymphoblasts from patient II-4 and healthy control. β-actin was used as loading control