Autosomal Dominant Osteopetrosis: Clinical Severity and Natural History of 94 Subjects with a Chloride Channel 7 Gene Mutation

• Published in: The journal of clinical endocrinology and metabolism Vol. 92; no. 3; pp. 771 - 778
• Main Authors: Waguespack, Steven G., Hui, Siu L., DiMeglio, Linda A., Econs, Michael J.
• Format: Journal Article
• Language: English
• Published: Bethesda, MD Oxford University Press 01.03.2007; Endocrine Society
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Bone Density; Bone marrow; Bone Marrow Diseases - epidemiology; Bone Marrow Diseases - genetics; Bone mineral density; Child; Child, Preschool; Children; Chloride Channels - genetics; Complications; Cross-Sectional Studies; Endocrinopathies; Femur; Fractures; Fractures, Spontaneous - epidemiology; Fractures, Spontaneous - genetics; Fundamental and applied biological sciences. Psychology; Genes, Dominant; Genotype & phenotype; Genotypes; Hereditary diseases; Humans; Infant; Maxilla; Medical records; Medical sciences; Middle Aged; Mutation; Osteomyelitis; Osteomyelitis - epidemiology; Osteomyelitis - genetics; Osteopetrosis; Osteopetrosis - epidemiology; Osteopetrosis - genetics; Patients; Phenotypes; Point mutation; Prevalence; Retrospective Studies; Risk assessment; Vertebrates: endocrinology; Vision Disorders - epidemiology; Vision Disorders - genetics; Human; Diseases of the osteoarticular system; Ionic channel; Severity; Genetic disease; Osteopetrosis; Gene; Autosomal character; Chlorides; Genetics; Mutation; Osteochondrodysplasia; Endocrinology; Natural history

Context: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations of this disease have not been well characterized since the discovery of the genetic basis of ADO. Objectives: The primary...