Research Paper Volume 13, Issue 1 pp 1176—1185

The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation

Clinical data of the proband. (A) Pedigree of the family presenting the p.Leu439Pro mutation. Circles and squares represent females and males, respectively. Clear symbols represent the healthy subject, the grey filled symbol with a cross indicates the deceased subject without clinical diagnosis or genetic examination, and the black filled symbol represents the proband. The asterisk was labeled to the individuals who received the MTHFR exon sequencing. (B) Representative brain MRI scan images in the basilar ganglia (left and middle panel) and centrum semiovale (right panel) in T2 and FLAIR sequence of the proband. Arrows indicate the white matter injury in the occipital lobe and parietal lobe. (C) Representative cervicothoracic combined MRI (left panel) slides of the proband to show the sever reverse gantry of the cervical spine (right upper panel) and scoliosis of the thoracic spine (right lower panel).

Figure 1. Clinical data of the proband. (A) Pedigree of the family presenting the p.Leu439Pro mutation. Circles and squares represent females and males, respectively. Clear symbols represent the healthy subject, the grey filled symbol with a cross indicates the deceased subject without clinical diagnosis or genetic examination, and the black filled symbol represents the proband. The asterisk was labeled to the individuals who received the MTHFR exon sequencing. (B) Representative brain MRI scan images in the basilar ganglia (left and middle panel) and centrum semiovale (right panel) in T2 and FLAIR sequence of the proband. Arrows indicate the white matter injury in the occipital lobe and parietal lobe. (C) Representative cervicothoracic combined MRI (left panel) slides of the proband to show the sever reverse gantry of the cervical spine (right upper panel) and scoliosis of the thoracic spine (right lower panel).