TY - JOUR
T1 - Progressive osseous heteroplasia
T2 - Diagnosis, treatment, and prognosis
AU - Pignolo, Robert J.
AU - Ramaswamy, Girish
AU - Fong, John T.
AU - Shore, Eileen M.
AU - Kaplan, Frederick S.
N1 - Publisher Copyright:
© 2015 Pignolo et al.
PY - 2015/1/15
Y1 - 2015/1/15
N2 - 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.
AB - 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.
KW - GNAS
KW - Heterotopic ossification
KW - Progressive osseous heteroplasia
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U2 - 10.2147/TACG.S51064
DO - 10.2147/TACG.S51064
M3 - Review article
AN - SCOPUS:84922201211
SN - 1178-704X
VL - 8
SP - 37
EP - 48
JO - Application of Clinical Genetics
JF - Application of Clinical Genetics
ER -