Gene Implicated in Recessive Osteogenesis Imperfecta

Study links mutations in CRTAP gene to recessive form of osteogenesis imperfecta

FRIDAY, Dec. 29 (HealthDay News) -- Mutations in the cartilage-associated protein (CRTAP) gene may cause the recessive form of osteogenesis imperfecta, according to a report in the Dec. 28 issue of the New England Journal of Medicine.

Building on findings from murine studies, Aileen M. Barnes, M.S., of the National Institutes of Health in Bethesda, Md., and colleagues screened dermal fibroblasts from 10 children with lethal or severe osteogenesis imperfecta who did not have primary collagen mutations. Researchers had suspected that there was a recessive form of the disease to account for the 10 to 15 percent of people with osteogenesis imperfecta who don't have a mutation in their collagen genes.

The investigators found that CRTAP genes were non-functional in three of the 10 children. Each parent carried one mutant CRTAP gene and one normal CRTAP gene in the two of three sets of parents who were available for genetic screening.

"This discovery provides a basis for counseling families that have lost a child to this previously unexplained form of osteogenesis imperfecta [and] it also offers insight into a crucial step needed in the formation of bone and other tissues," said Duane Alexander, M.D., the director of the National Institute of Child Health and Human Development in Bethesda, Md., in a written statement.

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