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Gene Discoveries Give Hope Against 'Brittle Bone' Disease
Date:5/8/2013

, inherited form of early onset osteoporosis, the youngest being a 12-year-old boy. In the Asian family affected by osteogenesis imperfecta, two sisters had severe forms of the disease: One woman was in a wheelchair, less than 3 feet tall and had serious bone deformities; her sister had started suffering fractures while still in the womb, had been paralyzed since early childhood and was severely intellectually impaired.

The sisters had what is known as recessive osteogenesis imperfecta, meaning they inherited a mutated gene from both parents (who were not themselves affected). Most cases of osteogenesis imperfecta arise when a child has just one copy of the defective gene -- either inherited from one parent or because the gene spontaneously mutated.

There is no cure for osteogenesis imperfecta. Right now, treatment involves physical therapy, walking aids, a healthy diet and possibly surgery to place rods through the length of the long bones to strengthen them. Researchers also are studying other treatments, such as growth hormone therapy and IV and oral bisphosphonates.

More information

Learn more about osteogeneis imperfecta from the Osteogeneis Imperfecta Foundation.

SOURCES: Brendan Lee, M.D., Ph.D., professor, molecular and human genetics, Baylor College of Medicine, Houston; Francis Glorieux, M.D., Ph.D., Shriners Hospital for Children, Montreal; May 9, 2013, New England Journal of Medicine


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