Families

UFSP2gene encodes a protein that has important function in brain and cartilage development. Disease causing variants in this gene can cause either a neurologic disorder or a bone/joint disorder depending on where the genetic change is. If it is closer to the N-terminal domain it can cause an autosomal recessive neurologic disorder. If the change is closer to the C-terminal domain a disease-causing variant will be associated with joint and bone problems. Inheritance in this case is autosomal dominant in the cases that were described.