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. Author manuscript; available in PMC: 2015 Nov 1.
Published in final edited form as: Nat Genet. 2015 Apr 6;47(5):528–534. doi: 10.1038/ng.3256

Figure 1. SNX14 mutations cause a syndromic form of severe cerebellar atrophy and coarsened facial features.

Figure 1

(a) Summary of exome results from 81 families with cerebellar atrophy. SNX14 accounted for 9.88% of the total families, with other genes making individual contributions. (b) Midline sagittal (top) or axial (middle) MRI and facies of affected individuals from representative families. Prominent atrophy of cerebellum evidenced by reduced volume and apparent folia (arrows and circles). Facies show prominent forehead, epicanthal folds, long philtrum and full lips. Consent to publish images of the subject was obtained. (c) SNX14 exons as ticks and location of mutations indicated. Scale bar 50 kb. (d) Truncating mutations relative to predicted protein domains. TM: Transmembrane, PXA: Phox homology associated, RGS: Regulator of G protein signaling, PX: Phox homology, PXC: Sorting Nexin, C-terminal. (e) ABD-II-2 (p.Arg378*) hematoxylin-eosin stained cerebellum compared with control showing reduction in internal granule cell layer (arrow, top), near complete depletion of Purkinje cells (arrow, middle), and dystrophic degenerating remnant Purkinje cell (arrow, bottom). Scale bar 100 µm.