Figure 2.

Facial and Neurological Features of Individuals with the p.Arg913Ter ZSWIM6 Variant

(A) Facial features of individuals 1 to 7. In early childhood frequent features include fine, arched eyebrows, short nose with depressed bridge and blunt tip, broad columella, thick everted lower lip vermillion, widely spaced teeth, downturned corners to mouth, mouth often held open, and esotropia. Individuals 1 and 6 were noted with age to develop prominent forehead and supraorbital ridges, thick eyebrows, and thicker everted lower lip vermillion, reminiscent of the facial appearance of older individuals with Coffin-Lowry syndrome. This was not the case for individual 7.

(B) Sural nerve biopsy from individual 1 demonstrating demyelination and abnormal accumulation of neurofilaments within numerous myelinated axons. (a) Low-power electron micrograph showing three fibers containing proliferated neurofilaments (arrows) among thinly myelinated fibers which demonstrate the normal density of axonal filaments. (b) Accumulated neurofilaments [n] in an axon with thick and folded myelin. (c) Demyelinated axon [d] packed with neurofilaments that displace other axonal organelles. (d) High magnification of (c) showing mitochondria and other organelles in septa between neurofilaments. (e) Demyelinated axon with proliferated neurofilaments in distinct whorled bundles. (f) High magnification of proliferated neurofilament bundle. The individual filaments measure 9–15 nm in diameter.