Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities ... Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).
Christiansen et al. (2010) reported a child with a severe deforming form of OI who was born to a clinically normal consanguineous Saudi Arabian couple and was the only affected member in the extended family. At birth he ... Christiansen et al. (2010) reported a child with a severe deforming form of OI who was born to a clinically normal consanguineous Saudi Arabian couple and was the only affected member in the extended family. At birth he was noted to have a triangular face, relative macrocephaly, bitemporal narrowing, blue sclerae, micrognathia, and relatively short limbs with bowing at the thighs. Radiographs of the chest showed thin ribs with healing fractures, a fracture of the right humerus, a healing fracture of the left humerus, and platyspondyly. A skeletal survey at the age of 1 month was consistent with the diagnosis of osteogenesis imperfecta. There were multiple bone deformities and fractures that involved the upper and lower extremities and ribs and generalized osteopenia. When he was 1 year old, bilateral renal stones were noticed with left pelviuretic junction obstruction that ultimately required left nephrectomy because of hydronephrosis and loss of renal function. He had chronic lung disease of unclear etiology and from the age of 1.5 years he required continuous oxygen by nasal cannula to maintain adequate oxygenation. He had small opalescent teeth consistent with dentinogenesis imperfecta. At age 3 years and 6 months he had sudden unexplained respiratory distress at home and died soon after arrival at the hospital. No autopsy was performed.
Because the SERPINH1 gene encodes a collagen-binding protein that functions as a chaperone in the endoplasmic reticulum, Christiansen et al. (2010) screened for mutations in this gene in individuals with OI whose cells did not produce overmodified type ... Because the SERPINH1 gene encodes a collagen-binding protein that functions as a chaperone in the endoplasmic reticulum, Christiansen et al. (2010) screened for mutations in this gene in individuals with OI whose cells did not produce overmodified type I collagen. In a Saudi Arabian patient with severe deforming OI X, they identified a homozygous missense mutation (600943.0002).