ASBMR: Fibrodysplasia Disease Mutations Vary

Patients with short digits in addition to progressive formation of heterotopic bone carry the same mutation

FRIDAY, Sept. 22 (HealthDay News) -- While the gene mutation that causes fibrodysplasia ossificans progressiva (FOP) was recently discovered, a new study from the same team of researchers suggests that several variations of the mutation can be found in those with atypical presentations, such as severely short fingers and toes. The findings were reported recently at the 28th annual meeting of the American Society for Bone and Mineral Research in Philadelphia.

Eileen Shore, Ph.D., of the University of Pennsylvania in Philadelphia, and colleagues originally evaluated the DNA of more than 60 patients with FOP who had classic symptoms (progressive, extensive extra bone formation and altered great toe shape). All genes contained the same single DNA letter mutation in ACVR1, which is the gene that codes for bone morphogenetic protein type I receptor.

However, an additional analysis of 11 patients with an atypical presentation of the disease, including some with extremely short digits, revealed that the patients had a variety of heterozygous mutations within ACVR1.

"These findings could eventually lead to the development of therapies for this disorder and provide insights into the development of treatments for other skeletal diseases," said Steve Goldring, M.D., president-elect of the ASBMR.


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