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Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.
J Bone Miner Res. 2000 Nov; 15(11):2074-83.JB

Abstract

Progressive osseous heteroplasia (POH) is a rare disorder characterized by dermal ossification beginning in infancy followed by increasing and extensive bone formation in deep muscle and fascia. We describe two unrelated girls with typical clinical, radiographic, and histological features of POH who also have findings of another uncommon heritable disorder, Albright hereditary osteodystrophy (AHO). One patient has mild brachydactyly but no endocrinopathy, whereas the other manifests brachydactyly, obesity, and target tissue resistance to thyrotropin and parathyroid hormone (PTH). Levels of the alpha-subunit of the G protein (Gsalpha) were reduced in erythrocyte membranes from both girls and a nonsense mutation (Q12X) in exon 1 of the GNAS1 gene was identified in genomic DNA from the mildly affected patient. Features of POH and AHO in two individuals suggest that these conditions share a similar molecular basis and pathogenesis and that isolated severe extraskeletal ossification may be another manifestation of Gsalpha deficiency.

Authors+Show Affiliations

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, Missouri 63131, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

11092390

Citation

Eddy, M C., et al. "Deficiency of the Alpha-subunit of the Stimulatory G Protein and Severe Extraskeletal Ossification." Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, vol. 15, no. 11, 2000, pp. 2074-83.
Eddy MC, Jan De Beur SM, Yandow SM, et al. Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. J Bone Miner Res. 2000;15(11):2074-83.
Eddy, M. C., Jan De Beur, S. M., Yandow, S. M., McAlister, W. H., Shore, E. M., Kaplan, F. S., Whyte, M. P., & Levine, M. A. (2000). Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 15(11), 2074-83.
Eddy MC, et al. Deficiency of the Alpha-subunit of the Stimulatory G Protein and Severe Extraskeletal Ossification. J Bone Miner Res. 2000;15(11):2074-83. PubMed PMID: 11092390.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. AU - Eddy,M C, AU - Jan De Beur,S M, AU - Yandow,S M, AU - McAlister,W H, AU - Shore,E M, AU - Kaplan,F S, AU - Whyte,M P, AU - Levine,M A, PY - 2000/11/25/pubmed PY - 2001/6/2/medline PY - 2000/11/25/entrez SP - 2074 EP - 83 JF - Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research JO - J. Bone Miner. Res. VL - 15 IS - 11 N2 - Progressive osseous heteroplasia (POH) is a rare disorder characterized by dermal ossification beginning in infancy followed by increasing and extensive bone formation in deep muscle and fascia. We describe two unrelated girls with typical clinical, radiographic, and histological features of POH who also have findings of another uncommon heritable disorder, Albright hereditary osteodystrophy (AHO). One patient has mild brachydactyly but no endocrinopathy, whereas the other manifests brachydactyly, obesity, and target tissue resistance to thyrotropin and parathyroid hormone (PTH). Levels of the alpha-subunit of the G protein (Gsalpha) were reduced in erythrocyte membranes from both girls and a nonsense mutation (Q12X) in exon 1 of the GNAS1 gene was identified in genomic DNA from the mildly affected patient. Features of POH and AHO in two individuals suggest that these conditions share a similar molecular basis and pathogenesis and that isolated severe extraskeletal ossification may be another manifestation of Gsalpha deficiency. SN - 0884-0431 UR - https://www.unboundmedicine.com/medline/citation/11092390/Deficiency_of_the_alpha_subunit_of_the_stimulatory_G_protein_and_severe_extraskeletal_ossification_ L2 - https://doi.org/10.1359/jbmr.2000.15.11.2074 DB - PRIME DP - Unbound Medicine ER -