Progressive osseous heteroplasia: Diagnosis, treatment, and prognosis

Robert Pignolo, Girish Ramaswamy, John T. Fong, Eileen M. Shore, Frederick S. Kaplan

Research output: Contribution to journalReview article

33 Citations (Scopus)

Abstract

Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase. POH is part of a spectrum of related genetic disorders, including Albright hereditary osteodystrophy, pseudohypoparathyroidism, and primary osteoma cutis, that share common features of superficial ossification and association with inactivating mutations of GNAS. The genetics, diagnostic criteria, supporting clinical features, current management, and prognosis of POH are reviewed here, and emerging therapeutic strategies are discussed.

Original languageEnglish (US)
Pages (from-to)37-48
Number of pages12
JournalApplication of Clinical Genetics
Volume8
DOIs
StatePublished - Jan 15 2015
Externally publishedYes

Fingerprint

Pseudohypoparathyroidism
GTP-Binding Protein alpha Subunits
Heterotopic Ossification
Mutation
Inborn Genetic Diseases
Adenylyl Cyclases
Osteogenesis
Progressive Osseous Heteroplasia
Genes
Therapeutics
Albright's hereditary osteodystrophy

Keywords

  • GNAS
  • Heterotopic ossification
  • Progressive osseous heteroplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Progressive osseous heteroplasia : Diagnosis, treatment, and prognosis. / Pignolo, Robert; Ramaswamy, Girish; Fong, John T.; Shore, Eileen M.; Kaplan, Frederick S.

In: Application of Clinical Genetics, Vol. 8, 15.01.2015, p. 37-48.

Research output: Contribution to journalReview article

Pignolo, Robert ; Ramaswamy, Girish ; Fong, John T. ; Shore, Eileen M. ; Kaplan, Frederick S. / Progressive osseous heteroplasia : Diagnosis, treatment, and prognosis. In: Application of Clinical Genetics. 2015 ; Vol. 8. pp. 37-48.
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