{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:44:25Z","timestamp":1789447465791,"version":"build-2803163510"},"reference-count":55,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2016,1,13]],"date-time":"2016-01-13T00:00:00Z","timestamp":1452643200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R01-46718"],"award-info":[{"award-number":["R01-46718"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["P01-DK11794"],"award-info":[{"award-number":["P01-DK11794"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011898","name":"Marianne and Marcus Wallenberg Foundation","doi-asserted-by":"crossref","award":["2014.0084"],"award-info":[{"award-number":["2014.0084"]}],"id":[{"id":"10.13039\/501100011898","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,4,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>\u2003<\/jats:title>\n                  <jats:p>Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and hyperphosphatemia, in most cases without evidence for Albright hereditary osteodystrophy (AHO). PHP1B is associated with epigenetic changes at one or several differentially-methylated regions (DMRs) within GNAS, which encodes the \u03b1-subunit of the stimulatory G protein (Gs\u03b1) and splice variants thereof. Heterozygous, maternally inherited STX16 or GNAS deletions leading to isolated loss-of-methylation (LOM) at exon A\/B alone or at all maternal DMRs are the cause of autosomal dominant PHP1B (AD-PHP1B). In this study, we analyzed three affected individuals, the female proband and her two sons. All three revealed isolated LOM at GNAS exon A\/B, whereas the proband's healthy maternal grandmother and uncle showed normal methylation at this locus. Haplotype analysis was consistent with linkage to the STX16\/GNAS region, yet no deletion could be identified. Whole-genome sequencing of one of the patients revealed a large heterozygous inversion (1,882,433 bp). The centromeric breakpoint of the inversion is located 7,225 bp downstream of GNAS exon XL, but its DMR showed no methylation abnormality, raising the possibility that the inversion disrupts a regulatory element required only for establishing or maintaining exon A\/B methylation. Because our three patients presented phenotypes consistent with PHP1B, and not with PHP1A, the Gs\u03b1 promoter is probably unaffected by the inversion. Our findings expand the spectrum of genetic mutations that lead to LOM at exon A\/B alone and thus biallelic expression of the transcript derived from this alternative first GNAS exon. \u00a9 2017 American Society for Bone and Mineral Research.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1002\/jbmr.3083","type":"journal-article","created":{"date-parts":[[2017,1,13]],"date-time":"2017-01-13T18:48:56Z","timestamp":1484333336000},"page":"776-783","source":"Crossref","is-referenced-by-count":32,"title":["A Large Inversion Involving <i>GNAS<\/i> Exon A\/B and All Exons Encoding Gs\u03b1 Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)"],"prefix":"10.1093","volume":"32","author":[{"given":"Giedre","family":"Grigelioniene","sequence":"first","affiliation":[{"name":"Department of Clinical GeneticsKarolinska University Hospital StockholmStockholmSweden"},{"name":"Department of Molecular Medicine and SurgeryKarolinska InstitutetStockholmSweden"},{"name":"Endocrine UnitMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasi I","family":"Nevalainen","sequence":"additional","affiliation":[{"name":"Endocrine UnitDepartment of Internal MedicineTampere University HospitalTampereFinland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Reyes","sequence":"additional","affiliation":[{"name":"Endocrine UnitMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Thiele","sequence":"additional","affiliation":[{"name":"Endocrine UnitMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olta","family":"Tafaj","sequence":"additional","affiliation":[{"name":"Endocrine UnitMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Molinaro","sequence":"additional","affiliation":[{"name":"Endocrine UnitMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rieko","family":"Takatani","sequence":"additional","affiliation":[{"name":"Endocrine UnitMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marja","family":"Ala-Houhala","sequence":"additional","affiliation":[{"name":"Department of PediatricsTampere University HospitalTampereFinland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Nilsson","sequence":"additional","affiliation":[{"name":"Science for Life LaboratoryKarolinska Institutet Science ParkSolnaSweden"},{"name":"Department of Clinical GeneticsKarolinska University Hospital StockholmStockholmSweden"},{"name":"Department of Molecular Medicine and SurgeryKarolinska InstitutetStockholmSweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesper","family":"Eisfeldt","sequence":"additional","affiliation":[{"name":"Science for Life LaboratoryKarolinska Institutet Science ParkSolnaSweden"},{"name":"Department of Molecular Medicine and SurgeryKarolinska InstitutetStockholmSweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Lindstrand","sequence":"additional","affiliation":[{"name":"Department of Clinical GeneticsKarolinska University Hospital StockholmStockholmSweden"},{"name":"Department of Molecular Medicine and SurgeryKarolinska InstitutetStockholmSweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Laure","family":"Kottler","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de CaenDepartment of GeneticsReference Centre for Rare Disorders of Calcium and Phosphorus MetabolismCaenFrance"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Institute of GeneticsHelsinkiFinland"},{"name":"Children's HospitalUniversity of Helsinki and Helsinki University HospitalHelsinkiFinland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"J\u00fcppner","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology UnitMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"},{"name":"Endocrine UnitMassachusetts General Hospital and Harvard Medical 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