Osteopetrosis complicated by schizophrenia results from mutations on Chromosome 16

Objective: To investigate the genetic pathogenesis and diagnosis of osteopetrosis, and its relationship with schizophrenia. Methods: Conducting extensive review of literature related to osteopetrosis patients with schizophrenia, summing common disease genes and diagnosis of osteopetrosis in association with schizophrenia. Results and Conclusion: Osteopetrosis is a rare inherited metabolic bone disease, with 12 kinds of common disease genes. In particular, mutations at 16p13.3 are closely related to schizophrenia. In recent years, molecular studies have identified three genes on chromosome 16 closely associated with schizophrenia, located at 16p13.3, 16p11.2, 16p13.11. Thus osteopetrosis and schizophrenia may not be two independent diseases, and understanding their relationship may help to identify schizophrenia at an earlier stage in osteopetrosis patients with mutations of chromosome 16. Conversely, patients with a family history of schizophrenia may be at increased risk for developing osteopetrosis.