r genetic testing, each parent carried one mutant CRTAP gene and one normal CRTAP gene, the classical pattern of recessive inheritance. Dr. Marini added that, on the basis of her samples, the mutation did not appear to be confined to a particular ethnic group.

OI is an uncommon disorder which occurs in 1 out of 15,000 to 20,000 births, Dr. Marini said. About one fourth of the known collagen mutations are lethal. She estimated that the recessive form of OI that she and her coworkers described in the current paper might occur in 2-3 percent of lethal OI cases.

Although there is no treatment for the disorder, the finding does allow OI experts to test families who have lost a child to OI for the presence of the recessive CRTAP gene. Couples who have lost a child to this form of OI could be apprised of their risk for conceiving another child with the disorder. Similarly, siblings of children affected by the recessive CRTAP gene can also be counseled about their likelihood of carrying the gene. The researchers have already tested the siblings of the infant who died 15 years ago. Dr. Marini said that she and her colleagues are investigating whether additional forms of OI might be caused by other recessive genes.

Dr. Marini said that the discovery of CRTAP's involvement with OI is exciting to researchers in the bone and genetics fields because it opens a new and unanticipated field of bone biology related to osteoporosis. She explained that the NIH team is now working to understand the role of this collagen-modification complex in normal bone development. Since CRTAP protein occurs elsewhere in the body, it may play an important role in the development of other tissues, Dr. Marini added.

Source-Eurekalert
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