Article Figures & Data
Figures
- Figure 1 Mutation Map of SNAP29 Variants and CEDNIK Case Report Pedigrees
(A) SNAP29 variants shown by cDNA position and nucleotide change with notations per Human Genome Structural Variation Consortium 2016 guidelines. Listed next to each variant are associated cases, noted as labelled gray circles. Labels #1–6 (light gray) indicate patients reported in this manuscript. Lettered labels indicate cases reported by previous reports (dark gray), noted by the first author’s last initial. Please note, all patients carry homozygous variants except L1 (compound heterozygous),7 M1-4 (hemizygous, gray arrows),16 and patient 6 (hemizygous). (B) Patient pedigrees. Symbol key: =consanguineous marriage, circle: female, square: male, triangle: miscarriage, filled: affected (numbers refer to subjects in this cohort), half-filled: known asymptomatic carrier. Note both miscarriages were first trimester and did not undergo genetic testing. cDNA = complementary DNA; CEDNIK = cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma; SNAP29 = synaptosomal-associated protein 29.
- Figure 2 Representative Facial Features and Skin Findings in Patients With CEDNIK
There was no recognizable gestalt of features among the patients described in this study. Patient 1 (age 18) displays (A) mild hypotelorism and (B) keratoderma of the soles of the feet. Patient 5 (age 6) displays (C) short forehead with bitemporal narrowing, low-set ears, microphthalmia, high-arched palate. Epicanthal folds, strabismus, anteverted nares, a short philtrum with bowed upper lip, micrognathia, a high-arched palate, and (D) generalized ichthyosis, here shown on the back. CEDNIK = cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma.
- Figure 3 Brain MRI of Patient 1 Shows Corpus Callosum Dysgenesis and Loss of Supratentorial Myelin
(A) T1-weighted MRI showing normal myelination at 14 months but loss of normal T1 hyperintense white matter signal at 12 years consistent with severe hypomyelination (yellow arrows). (B) T1-weighted MRI showing dysgenesis of the corpus callosum with a deficient splenium. Although there is normal myelin in the genu of the corpus callosum at 14 months, it is lost at 12 years (orange arrows). In addition, there is platybasia with resultant kinking of the medulla oblongata. (C) Single voxel proton MR spectroscopy with TE 144 ms at 12 years of age. Top row: T1W, T2 FLAIR, and T2W images show abnormal white matter. Bottom row: spectrum shows elevated choline relative to n-acetylaspartate (NAA) in the right frontal lobe white matter, consistent with the loss of sphingolipid in the myelin and suggestive of myelin breakdown. A normal spectrum should show reversed levels of NAA and choline.17.
- Figure 4 Brain MRI of Patient 5 Shows Small Frontal Lobes, Abnormal Sylvian Fissures, and T2 Hyperintensity of the Globus Pallidus
Axial T1W and T2W images at (A) 4 days of life and (B) at 10 month old. Structural findings include small frontal lobes and abnormal Sylvian fissures (orange arrows). Myelination in the newborn period is normal above the tentorium because only the posterior limb of the internal capsule should be myelinated.22 (B) At 10 months, there is subtle hypomyelination in the occipital regions, but some normal myelin is seen in the genu of the corpus callosum. There is high T2W signal in the globus pallidus bilaterally (cyan arrow).
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