Basis of rare genetic illness leads to better understanding of bone formation, Hopkins researchers find

e research team examined 18 unrelated individuals diagnosed with POH. All study participants had relatives who had also been diagnosed with POH. Sequenced DNA showed that of the 18 study participants, 13 possessed one mutant copy of the GNAS1 gene. The prevalence of the GNAS1 mutation was high enough to implicate the gene as a major cause of POH, though other factors may contribute, researchers concluded.

Patients diagnosed with POH develop spontaneous bone fragments under the skin and deep inside their bodies throughout life. The lesions caused by POH can be identified, leading to diagnosis soon after birth. Levine estimates one of every 100,000 individuals is affected by the disorder.


Contact: David Bricker
Johns Hopkins Medical Institutions

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