Tags

Type your tag names separated by a space and hit enter

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.
Am J Med Genet A 2008; 146A(14):1788-96AJ

Abstract

Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep skeletal muscle. POH occurs in the absence of multiple developmental features of Albright hereditary osteodystrophy (AHO) or hormone resistance, clinical manifestations that are also associated with GNAS inactivation. However, occasional patients with AHO and pseudohypoparathyroidism 1a/c (PHP1a/c; AHO features plus hormone resistance) have also been described who have progressive HO. This study was undertaken to define the diagnostic and mutational spectrum of POH and progressive disorders of HO, and to distinguish them from related disorders in which HO remains confined to the skin and subcutaneous tissues. We reviewed the charts of 111 individuals who had cutaneous and subcutaneous ossification. All patients were assessed for eight characteristics: age of onset of HO, presence and location of HO, depth of HO, type of HO, progression of HO, features of AHO, PTH resistance, and GNAS mutation analysis. We found, based on clinical criteria, that POH and progressive HO syndromes are at the severe end of a phenotypic spectrum of GNAS-inactivating conditions associated with extra-skeletal ossification. While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of HO (e.g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c).

Authors+Show Affiliations

Department of Orthopaedic Surgery, University of Pennsylvania, School of Medicine, Philadelphia, Pennsylvania 19104, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18553568

Citation

Adegbite, N S., et al. "Diagnostic and Mutational Spectrum of Progressive Osseous Heteroplasia (POH) and Other Forms of GNAS-based Heterotopic Ossification." American Journal of Medical Genetics. Part A, vol. 146A, no. 14, 2008, pp. 1788-96.
Adegbite NS, Xu M, Kaplan FS, et al. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. Am J Med Genet A. 2008;146A(14):1788-96.
Adegbite, N. S., Xu, M., Kaplan, F. S., Shore, E. M., & Pignolo, R. J. (2008). Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. American Journal of Medical Genetics. Part A, 146A(14), pp. 1788-96. doi:10.1002/ajmg.a.32346.
Adegbite NS, et al. Diagnostic and Mutational Spectrum of Progressive Osseous Heteroplasia (POH) and Other Forms of GNAS-based Heterotopic Ossification. Am J Med Genet A. 2008 Jul 15;146A(14):1788-96. PubMed PMID: 18553568.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. AU - Adegbite,N S, AU - Xu,M, AU - Kaplan,F S, AU - Shore,E M, AU - Pignolo,R J, PY - 2008/6/17/pubmed PY - 2008/8/21/medline PY - 2008/6/17/entrez SP - 1788 EP - 96 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 146A IS - 14 N2 - Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep skeletal muscle. POH occurs in the absence of multiple developmental features of Albright hereditary osteodystrophy (AHO) or hormone resistance, clinical manifestations that are also associated with GNAS inactivation. However, occasional patients with AHO and pseudohypoparathyroidism 1a/c (PHP1a/c; AHO features plus hormone resistance) have also been described who have progressive HO. This study was undertaken to define the diagnostic and mutational spectrum of POH and progressive disorders of HO, and to distinguish them from related disorders in which HO remains confined to the skin and subcutaneous tissues. We reviewed the charts of 111 individuals who had cutaneous and subcutaneous ossification. All patients were assessed for eight characteristics: age of onset of HO, presence and location of HO, depth of HO, type of HO, progression of HO, features of AHO, PTH resistance, and GNAS mutation analysis. We found, based on clinical criteria, that POH and progressive HO syndromes are at the severe end of a phenotypic spectrum of GNAS-inactivating conditions associated with extra-skeletal ossification. While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of HO (e.g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c). SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/18553568/Diagnostic_and_mutational_spectrum_of_progressive_osseous_heteroplasia__POH__and_other_forms_of_GNAS_based_heterotopic_ossification_ L2 - https://doi.org/10.1002/ajmg.a.32346 DB - PRIME DP - Unbound Medicine ER -