G2Cdb::Allele report

Mutation type

Altered genes (1)

Gene Symbol Species Description
G00001473 GNAS Homo sapiens GNAS complex locus

Diseases (1)

Disease Description Nervous effect
D00000264 Progressive osseous heteroplasia N

Literature (1)

Pubmed - human_disease

  • Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.

    Eddy MC, Jan De Beur SM, Yandow SM, McAlister WH, Shore EM, Kaplan FS, Whyte MP and Levine MA

    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, Missouri 63131, USA.

    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.

    Funded by: NIAMS NIH HHS: 2R01-AR41916-04, R01 AR046831; NIDDK NIH HHS: DK 34281; PHS HHS: GCRC 00055

    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2000;15;11;2074-83

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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