Molecular characteristics

Different pathogenic variants have been described associated with different presentation: Heterozygous variant c.868T>C, p.Y290H has been associated with Beukes hip dysplasia with incomplete penetrance and variable expression. Heterozygous variants c.1277A>C, p.D426A, c.1283A>G, p.H428R, c.905G>C, p.C302S have been associated with spondyloepimetaphyseal dysplasia. Homozygous variant p.V115E has been shown to cause a severe neurodevelopmental disorder. The mechanism underlying the disorders is unknown, but the skeletal phenotype might be associated with abnormal catalytic activity of the UFSP2 protease.