case_images: PMC11102957_01
case_images: Dysmorphic facial features. Dysmorphic features include a prominent forehead, metopic prominence, fan-shaped eyebrows, long eyelashes, sunken eyes, nystagmus, wide nasal bridge, full cheeks, thick nasal tip, prominent upper lip, retrognathia, pointed ears with hypoplastic helix and prominent concha.
case_images: fgene-15-1363558-g001.jpg
case_images: PMC11102957_01_fgene-15-1363558-g001.jpg
case_images: F1
case_images: Dysmorphic features include a prominent forehead, metopic prominence, fan-shaped eyebrows, long eyelashes, sunken eyes, nystagmus, wide nasal bridge, full cheeks, thick nasal tip, prominent upper lip, high palate, retrognathia, pointed ears with hypoplastic helix and prominent concha (Figure 1), as well as wide-set nipples, dorsal hypertrichosis, and a congenital dermal melanocytosis (mongolian spot) over the sacral region, and non-communicating sacral dimple.
case_images: ESI-MS analysis of plasma transferrin isoforms. A type 1 CDG profile was identified with increased ratio of mono-transferrin (M-tf) to di-transferrin (Di-tf). Also, a transferrin isoform bearing a linear heptasaccharyde glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2; linear-tf) was identified.
case_images: fgene-15-1363558-g002.jpg
case_images: PMC11102957_01_fgene-15-1363558-g002.jpg
case_images: F2
case_images: Interestingly, this unusual glycan has also been recently reported in Argentinian ALG2-CDG patients (Figure 2).
case_images: Protein abundance of LAMP1 and ALG2. Immunoblots showing LAMP-1 (A) or ALG2 (B) protein abundance in childs' fibroblasts (P). Healthy Controls (GM5565, 3-year-old; GM5399, 1 year-old; GM8680 6 months-old). Beta-Actin or vinculin were used as a loading control. LAMP-1, ALG2, B-ACTIN or VINCULIN bands in the blots were quantified using Li-Cor Odyssey Image Studio (version 3.1). The quantified values for LAMP1 or ALG2 were expressed relative to quantified value of BACT or VINCULIN, respectively. The average value (relative to BACT or VINCULIN) of all controls (in duplicate) were used to express the fold change of expression for child's values (in duplicate). LAMP1: reduced 76% vs. control average. ALG2: reduced 80% vs. control average.
case_images: fgene-15-1363558-g003.jpg
case_images: PMC11102957_01_fgene-15-1363558-g003.jpg
case_images: F3
case_images: LAMP1 is a common marker of cellular glycosylation that has been previously shown to decrease in CDG fibroblasts. LAMP1 abundance was decreased by 76% compared to control cells (Figure 3A). The abundance of ALG2 was also reduced 80% compared to control cells (Figure 3B).