Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

Figure 1

(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.

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