FIGURE

Figure 1

ID

ZDB-FIG-210512-47

Publication

Sofou et al., 2021 - Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease

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Figure 1

Clinical features of the patients

Facial phenotypes of patient A at 3.5 years of age, showing coarse facial features, broad ear lobes, macroglossia, and hypertrichosis.

Radiograph of the hand of patient B at 21 months of age demonstrating rough trabecular structure and thin corticalis as signs of dysostosis multiplex.

Ovoid vertebrae visualized by spine radiographs of both patients.

T2‐weighed brain MRIs of patient A (D1–3) at 28 months of age and patient B at (D4–6) at 16 months of age, showing global brain atrophy as well as periventricular and deep white matter hyperintensities.

E–G

Additional MR investigations of patient A at 28 months of age. (E) T1‐weighed coronal images demonstrating thinning of the posterior corpus callosum and reduced volumes of the cerebellar hemispheres and vermis. (F) Magnetic resonance spectroscopy of the white matter showing a decreased N‐acetylaspartate (NAA) peak at 2.02 ppm (arrow). (G) T1‐weighed MRI of the spinal cord showing contrast enhancements around the conus medullaris (arrowheads).

May Grunwald‐Giemsa‐stained bone marrow smear from patient A with myelopoietic cells containing dense granules (arrowheads), suggestive of a lysosomal storage disorder.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ EMBO Mol. Med.