Fig. 1
From: Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders
Sanger sequencing and Brain MRI examples. (A-1) Sanger sequencing showed ABCD1 c.1028G > A (p.G343D) in Case 4. (A-2/3) Sanger sequencing showed EIF2B5 c.C385T (p.R129X) and c.G633T (p.R211S) in Case 7. (A-4) Sanger sequencing showed GFAP c.1246 C > T (p.R416W) in Case 9. (A-5/6) Sanger sequencing showed ARSA c.242G > A (p.G81D) and c.448 C > T (p.P150S) in Case 8. (B-1) Brain MRI showed bilateral WMH in tempro-parieto-occipital region and splenium of corpus callosum in Case 4. (B-2) Brain MRI showed bilateral diffuse WMH in the centrum semiovale, corona radiata, middle cerebellar peduncles with cystic degeneration in Case 6. (B-3) Brain MRI showed bilateral diffuse WMH in the centrum semiovale, corona radiata, corpus callosum, middle cerebellar peduncles in Case 10. (B-4) Brain MRI showed bilateral diffuse WMH in the periventricular area in Case 9. (B-5) Brain MRI showed bilateral T2/DWI hyperintensities in the centrum semiovale, corona radiata, splenium of corpus callosum with stripe-like pattern in Case 8. (B-6) Brain MRI showed diffuse T2/DWI hyperintensities in the subcortical regions, and T1 hyperintensities in the periventricular areas in Case 11