HSPG2 and Hip dysplasia: In conclusion, these variants are reported based on their rarity in the general population (absent from 1000G, ExAC and dbSNP), in accordance with an autosomal dominant inheritance with incomplete penetrance shown by the family pedigree and the association of other HSPG2 mutations with several skeletal phenotypes including hip dysplasia in human and mice points towards the role of ATP2B4 in bone formation through modulation of calcium signaling.