Skip to main content
Fig. 1 | BMC Medical Genetics

Fig. 1

From: Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

Fig. 1

a X-rays revealed severely diffusely demineralized bones, along with multiple growth arrests lines. Stabilization rods are in both femurs and bilateral bowing of the tibiae and fibulae are evident (right pictured). b Cmh000720 is mildly dysmorphic with downslanting palpebral fissures (left), short neck, and curved lower extremities. While able to ambulate with a walker and physical assistance, he is wheelchair-bound. c mRNA expression of B3GAT3 in primary fibroblasts in cmh000720 was not statistically different from control using two sets of primers, whereas western blotting (d) showed a decrease in overall protein. e Glucuronyltransferase activity was determined by incorporation of [14C]GlcA into the Galβ1-3Galβ1-O-methyl. The control sample utilized an enzyme source from the fibroblasts from a healthy control subject. *P < 0.0001

Back to article page