Osteogenesis Imperfecta (OI) is characterized by high susceptibility to bone fractures which can be accompanied by skeletal dysplasia and short stature. Secondary features include blue sclera, dentinogenesis imperfecta and hearing loss. The prevalence of the disease is approximately 1: 15-20,000. OI is associated with mutations in ~20 different genes and the inheritance can be autosomal dominant, autosomal recessive or X-linked recessive. OI patients with mutations in KDELR2 have been known to present multiple fractures, short stature and skeletal deformities. The prevalence of OI due to mutations in KDELR2 is not yet known. The disease shows an autosomal recessive pattern of inheritance.
KDELR2