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Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.
Bone 2013; 56(2):276-80BONE

Abstract

Progressive osseous heteroplasia (POH) is a rare autosomal dominant disorder of mesenchymal differentiation characterized by progressive heterotopic ossification (HO) of dermis, deep connective tissues and skeletal muscle. Usually, initial bone formation occurs during infancy as primary osteoma cutis (OC) then progressively extending into deep connective tissues and skeletal muscle over childhood. Most cases of POH are caused by paternally inherited inactivating mutations of GNAS gene. Maternally inherited mutations as well as epigenetic defects of the same gene lead to pseudohypoparathyroidism (PHP) and Albright's hereditary osteodystrophy (AHO). During the last decade, some reports documented the existence of patients with POH showing additional features characteristic of AHO such as short stature and brachydactyly, previously thought to occur only in other GNAS-associated disorders. Thus, POH can now be considered as part of a wide spectrum of ectopic bone formation disorders caused by inactivating GNAS mutations. Here, we report genetic and epigenetic analyses of GNAS locus in 10 patients affected with POH or primary OC, further expanding the spectrum of mutations associated with this rare disease and indicating that, unlike PHP, methylation alterations at the same locus are absent or uncommon in this disorder.

Authors+Show Affiliations

Department of Clinical Sciences and Community Health, University of Milan, Endocrinology and Diabetology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, via F. Sforza 35, 20122 Milano, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23796510

Citation

Elli, F M., et al. "Screening for GNAS Genetic and Epigenetic Alterations in Progressive Osseous Heteroplasia: First Italian Series." Bone, vol. 56, no. 2, 2013, pp. 276-80.
Elli FM, Barbieri AM, Bordogna P, et al. Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series. Bone. 2013;56(2):276-80.
Elli, F. M., Barbieri, A. M., Bordogna, P., Ferrari, P., Bufo, R., Ferrante, E., ... Mantovani, G. (2013). Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series. Bone, 56(2), pp. 276-80. doi:10.1016/j.bone.2013.06.015.
Elli FM, et al. Screening for GNAS Genetic and Epigenetic Alterations in Progressive Osseous Heteroplasia: First Italian Series. Bone. 2013;56(2):276-80. PubMed PMID: 23796510.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series. AU - Elli,F M, AU - Barbieri,A M, AU - Bordogna,P, AU - Ferrari,P, AU - Bufo,R, AU - Ferrante,E, AU - Giardino,E, AU - Beck-Peccoz,P, AU - Spada,A, AU - Mantovani,G, Y1 - 2013/06/21/ PY - 2013/04/24/received PY - 2013/06/13/revised PY - 2013/06/14/accepted PY - 2013/6/26/entrez PY - 2013/6/26/pubmed PY - 2014/3/22/medline KW - GNAS KW - Heterotopic ossification (HO) KW - Osteoma cutis (OC) KW - Progressive osseous heteroplasia (POH) SP - 276 EP - 80 JF - Bone JO - Bone VL - 56 IS - 2 N2 - Progressive osseous heteroplasia (POH) is a rare autosomal dominant disorder of mesenchymal differentiation characterized by progressive heterotopic ossification (HO) of dermis, deep connective tissues and skeletal muscle. Usually, initial bone formation occurs during infancy as primary osteoma cutis (OC) then progressively extending into deep connective tissues and skeletal muscle over childhood. Most cases of POH are caused by paternally inherited inactivating mutations of GNAS gene. Maternally inherited mutations as well as epigenetic defects of the same gene lead to pseudohypoparathyroidism (PHP) and Albright's hereditary osteodystrophy (AHO). During the last decade, some reports documented the existence of patients with POH showing additional features characteristic of AHO such as short stature and brachydactyly, previously thought to occur only in other GNAS-associated disorders. Thus, POH can now be considered as part of a wide spectrum of ectopic bone formation disorders caused by inactivating GNAS mutations. Here, we report genetic and epigenetic analyses of GNAS locus in 10 patients affected with POH or primary OC, further expanding the spectrum of mutations associated with this rare disease and indicating that, unlike PHP, methylation alterations at the same locus are absent or uncommon in this disorder. SN - 1873-2763 UR - https://www.unboundmedicine.com/medline/citation/23796510/Screening_for_GNAS_genetic_and_epigenetic_alterations_in_progressive_osseous_heteroplasia:_first_Italian_series_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S8756-3282(13)00233-0 DB - PRIME DP - Unbound Medicine ER -