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The POH Collaborative
Research Project (Summary)
The
Following is a summary of what the POH Collaborative Research
Group has learned since their work began:
1. 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.
2. Defined
the histopathology (microscopic tissue characteristics) of heterotopic
ossification in POH.
3. Established
risk profiles for heterotopic ossification in patients who have
POH.
4. Distinguished
POH from Fibrodysplasia Ossificans Progressiva (FOP), another
autosomal dominant disorder of heterotopic ossification in children.
5. Noted
the similarities and differences between POH and Albright Hereditary
Osteodystrophy (AHO), an autosomal dominant disorder that can
exhibit cutaneous and subcutaneous heterotopic ossification.
6. Identified
a child with unilateral hemimelic POH and reported a multigenerational
family with POH.
7. Identified
and/or examined 40 patients with POH (19 males and 21 females).
8. Identified
two children with features of both AHO/PHP and POH.
9. Postulated
a putative connection between the molecular genetics of AHO/PHP
and POH.
10. Established
GNAS1 as the leading candidate gene for POH.
11. Discovered
a heterozygous 4-bp deletion in GNAS1 in a patient with severe
plate-like osteoma cutis (POC), a variant of POH.
12. Discovered
heterozygous mutations in approximately 20 GNAS1 families with
classic expression of POH.
13. Wrote
and published “What is POH? A Guidebook for Families.”
14. 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.
15. 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.
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