NIH R01 · 2024
Autosomal Dominant Osteopetrosis: A Natural History Study
Abstract NIAMS Natural Hx Proposal Abstract Autosomal dominant osteopetrosis type 2 (ADO2) is a rare osteosclerotic disorder resulting from impaired osteoclastic bone resorption most commonly due to mutations in the Chloride Channel 7 gene, which cause disease by a dominant negative mechanism. Penetrance is approximately 66% and disease severity varies widely. Affected individuals typically have at least one significant clinical manifestation including fractures, osteonecrosis, osteomyelitis, blindness, or bone marrow failure. Ten of our patients have died (out of >80 with clinical manifestations) either of disease manifestations or from attempts at therapy for severe disease. The natural…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.