The POH Collaborative Research Project (Summary)
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The Following is a summary of what the POH Collaborative Research Group has learned since their work began:
- Discovered, named, and identified POH as a distinct developmental disorder of heterotopic ossification in humans, and provided a detailed clinical description of the disease phenotype.
- Defined the histopathology (microscopic tissue characteristics) of heterotopic ossification in POH.
- Established risk profiles for heterotopic ossification in patients who have POH.
- Distinguished POH from Fibrodysplasia Ossificans Progressiva (FOP), another autosomal dominant disorder of heterotopic ossification in children.
- Noted the similarities and differences between POH and Albright Hereditary Osteodystrophy (AHO), an autosomal dominant disorder that can exhibit cutaneous and subcutaneous heterotopic ossification.
- Identified a child with unilateral hemimelic POH and reported a multigenerational family with POH.
- Identified and/or examined 40 patients with POH (19 males and 21 females).
- Identified two children with features of both AHO/PHP and POH.
- Postulated a putative connection between the molecular genetics of AHO/PHP and POH.
- Established GNAS1 as the leading candidate gene for POH.
- Discovered a heterozygous 4-bp deletion in GNAS1 in a patient with severe plate-like osteoma cutis (POC), a variant of POH.
- Discovered heterozygous mutations in approximately 20 GNAS1 families with classic expression of POH.
- Wrote and published “What is POH? A Guidebook for Families.”
- Organized and hosted the First International Workshop on POH, as part of the Second International Symposium on FOP (October 1995). This meeting was attended by sixty physicians and scientists and by three POH families. The Workshop provided the scientific basis for establishing an international POH collaborative working group.
- Organized and hosted the Second International Workshop on POH as part of the Third International Symposium on FOP (November 2-5, 2000). This meeting was attended by approximately two hundred physicians and scientists and by nine POH families.