{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:15Z","timestamp":1789447395041,"version":"build-2803163510"},"reference-count":53,"publisher":"The Endocrine Society","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Context: Heterozygous GNAS inactivating mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited. Progressive osseous heteroplasia (POH) is a rare disease of ectopic bone formation, and studies in different families have shown that POH is also caused by paternally inherited GNAS mutations.<\/jats:p>\n                  <jats:p>Objective: Our purpose was to characterize parental origin of the mutated allele in de novo cases of POH and to draw phenotype\/genotype correlations according to maternal or paternal transmission of a same GNAS mutation.<\/jats:p>\n                  <jats:p>Design and Setting: We conducted a retrospective study on patients addressed to our referral center for the rare diseases of calcium and phosphorus metabolism.<\/jats:p>\n                  <jats:p>Patients and Methods: We matched 10 cases of POH with cases of pseudohypoparathyroidism type 1a carrying the same GNAS mutations.<\/jats:p>\n                  <jats:p>Main Outcome Measures: The parental origin of the mutated allele was studied using informative intragenic polymorphisms and subcloning of PCR products.<\/jats:p>\n                  <jats:p>Results: Paternal origin of GNAS mutations was clearly demonstrated in eight POH cases including one patient with mutation in exon 1. Genotype\/phenotype analyses suggest that there is no direct correlation between the ossifying process and the position of the inactivating GNAS mutation. It is, however, more severe in patients in whom origin of the mutation is paternal. Severe intrauterine growth retardation was clearly evidenced in paternally inherited mutations.<\/jats:p>\n                  <jats:p>Conclusions: Clinical heterogeneity makes genetic counseling a delicate matter, especially in which paternal inheritance is concerned because it can lead to either a mild expression of pseudopseudohypoparathyroidism or a severe expression of POH.<\/jats:p>","DOI":"10.1210\/jc.2009-1451","type":"journal-article","created":{"date-parts":[[2010,4,28]],"date-time":"2010-04-28T22:33:47Z","timestamp":1272494027000},"page":"3028-3038","source":"Crossref","is-referenced-by-count":62,"title":["Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans"],"prefix":"10.1210","volume":"95","author":[{"given":"M.","family":"Lebrun","sequence":"first","affiliation":[{"name":"Department of Genetics and Reproduction (M.L., N.R., G.A., M.L.K.), University Hospital-Caen, 14033 Caen, France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Richard","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reproduction (M.L., N.R., G.A., M.L.K.), University Hospital-Caen, 14033 Caen, France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Abeguile\u0301","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reproduction (M.L., N.R., G.A., M.L.K.), University Hospital-Caen, 14033 Caen, France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"David","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics (A.D.), University Hospital-Nantes, 44000 Nantes, France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Coe\u0308slier","family":"Dieux","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics (A.C.D.), University Hospital-Lille, 59037 Lille, France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Journel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics (H.J.), Hospital Bretagne Atlantique, 56017 Vannes, France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Lacombe","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics (D.L., A.T.), University Hospital-Bordeaux, University of Bordeaux 2, 33404 Talence, France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Pinto","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology (G.P.), Necker Hospital, 75743 Paris, France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Odent","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics (S.O.), Rare Diseases Center for Development Anomalies, University Hospital-Rennes, University of Rennes 1, 35033 Rennes France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. P.","family":"Salles","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology and Bones Diseases (J.P.S.), Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism, Children\u2019s Hospital, University Hospital-Toulouse, 31059 Toulouse, France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Taieb","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics (D.L., A.T.), University Hospital-Bordeaux, University of Bordeaux 2, 33404 Talence, France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Gandon-Laloum","sequence":"additional","affiliation":[{"name":"Laboratory of Biology Molecular, Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism, and Department of Pediatric Surgery (S.G.-L.), University Hospital-Caen, 14033 Caen, France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. L.","family":"Kottler","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reproduction (M.L., N.R., G.A., M.L.K.), University Hospital-Caen, 14033 Caen, France"},{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale Unite\u0301 563 (CPTP), University Hospital-Toulouse, 31059 Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071613474268400_R1","doi-asserted-by":"crossref","first-page":"425","DOI":"10.2106\/00004623-199403000-00013","article-title":"Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. 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