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Researchers Discovered the Gene Responsible for Brittle Bone Disease

or bone fracture. Additional information about OI is available from the National Institute of Arthritis and Musculoskeletal and Skin Diseases.

Dr. Marini explained that from 10 to 15 percent of OI patients do not have a mutation in one of the collagen genes known to cause the disorder. She noted that researchers couldn't explain these cases, and began searching for possible causes.

"The hypothesis was that there must be one or more recessive genes causing something that looked like OI," she said.

The first clue came when colleagues Roy Morello Ph.D., and Brendan Lee, M.D., Ph.D. also authors of the current paper, developed a laboratory mouse that lacked functional copies of CRTAP. The researchers developed the mouse to understand the function of the CRTAP protein, which Dr. Morello had isolated earlier. The mice had deformed brittle bones. Next, Drs. Morello and Lee studied a family with an unexplained form of OI, learning that a partially functioning copy of the CRTAP gene accounted for a moderate form of the disease, designated type VII OI.

After learning of Dr. Morello and Dr. Lee's findings, Dr. Marini and her coworkers examined tissue samples from three patients in Dr. Marini's NIH laboratory. The patients had all died during their first year of life and the cause for their disorder was unknown. Dr. Marini had stored the samples, one for nearly 15 years, in hopes that a cause would eventually be discovered. The three patients had symptoms unlike other OI patients. For example, the children all had small heads. Most OI patients have proportionally larger heads. Moreover, the sclerae, or "whites" of the infants' eyes were white in coloration; in most OI patients, the sclerae are blue.

Dr. Marini and her colleagues tested samples from the three infants and learned that their CRTAP genes were nonfunctional and the infants completely lacked the CRTAP protein. In the two sets of parents who were available fo
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