PMC6220403_01
(a) Consanguineous Omani family segregating cerebellar atrophy, ataxia, coarse facial features, and intellectual disability. Arrow indicates index patient (IV-1). (b) Sanger sequencing chromatogram for reference (top panel) and index (bottom) showing the SNX14:c.2319_2322del pathogenic mutation (blue shade). The nature and zygosity status of the c.2319_2322del mutation segregating within this family is confirmed.
CRIG2018-6737938.001.jpg
PMC6220403_03_CRIG2018-6737938.001.jpg
fig1
SNX14 is predicted to lead to a premature stop codon and truncated protein p.(Arg774Serfs*10). Sanger sequencing confirmed the nature and homozygous state of the mutation in the proband and her affected sibling [Figure 1(b)].
T1-weighed brain MRI of the index patient showing cerebellar atrophy.
CRIG2018-6737938.002.jpg
PMC6220403_01_CRIG2018-6737938.002.jpg
fig2
MRI brain showed cerebellar atrophy more prominent in anterior vermis with asymmetric white matter volume loss (more in the left side) resulting in crossed cerebellar diaschisis [Figure 2].
PMC6220403_02
PMC6220403_03
(a) Consanguineous Omani family segregating cerebellar atrophy, ataxia, coarse facial features, and intellectual disability. Arrow indicates index patient (IV-1). (b) Sanger sequencing chromatogram for reference (top panel) and index (bottom) showing the SNX14:c.2319_2322del pathogenic mutation (blue shade). The nature and zygosity status of the c.2319_2322del mutation segregating within this family is confirmed.
CRIG2018-6737938.001.jpg
PMC6220403_03_CRIG2018-6737938.001.jpg
fig1
SNX14 is predicted to lead to a premature stop codon and truncated protein p.(Arg774Serfs*10). Sanger sequencing confirmed the nature and homozygous state of the mutation in the proband and her affected sibling [Figure 1(b)].