{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T08:31:38Z","timestamp":1714033898096},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"9","funder":[{"name":"President Foundation of Nanfang Hospital, Southern Medical University","award":["2018C036"],"award-info":[{"award-number":["2018C036"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9,25]]},"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n Objectives Pseudohypoparathyroidism type 1A (PHP1A) is caused by maternal inheritance of GNA<\/jats:italic>S mutations. It is characterized by the resistance to several hormones, primarily the parathyroid hormone (PTH), and the features of Albright\u2019s hereditary osteodystrophy.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n Here, we present a family comprised two affected brothers with PHP1A and identify a novel mutation (c.277C>T) in the GNA<\/jats:italic>S gene. The siblings developed a slightly different presentation in the same clinical condition. Although both patients presented with PTH resistance, which is the hallmark of PHP, the proband showed the thyroid-stimulating hormone resistance with the progression of heterotopic ossification from skin and subcutaneous tissue into deep connective tissue, while the younger brother with normocalcemia did not\u00a0show the resistance to other hormones. The patients may inherit the mutation from their mother who presumably carries the mutation as a mosaicism.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n Our case highlights the significance of considering mosaicism as an explanation for apparent de novo<\/jats:italic> cases of pseudohypoparathyroidism.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2019-0476","type":"journal-article","created":{"date-parts":[[2020,9,7]],"date-time":"2020-09-07T13:23:09Z","timestamp":1599484989000},"page":"1219-1224","source":"Crossref","is-referenced-by-count":2,"title":["A novel GNA<\/i>S mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A"],"prefix":"10.1515","volume":"33","author":[{"given":"Qi","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Dermatology , Nanfang Hospital, Southern Medical University , Guangzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiayi","family":"Xian","sequence":"additional","affiliation":[{"name":"Department of Dermatology , Nanfang Hospital, Southern Medical University , Guangzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pingjiao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology , Nanfang Hospital, Southern Medical University , Guangzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingying","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology , Nanfang Hospital, Southern Medical University , Guangzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Dermatology , Nanfang Hospital, Southern Medical University , Guangzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinyao","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Dermatology , Nanfang Hospital, Southern Medical University , Guangzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongkai","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Dermatology , Nanfang Hospital, Southern Medical University , Guangzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changxing","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology , Nanfang Hospital, Southern Medical University , Guangzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kang","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Dermatology , Nanfang Hospital, Southern Medical University , Guangzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,8,27]]},"reference":[{"key":"2021052023504080090_j_jpem-2019-0476_ref_001_w2aab3b7b5b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Mantovani, G, Spada, A, Elli, FM. Pseudohypoparathyroidism and Gsalpha-cAMP-linked disorders: current view and open issues. Nat Rev Endocrinol 2016; 12: 347\u201356. https:\/\/doi.org\/10.1038\/nrendo.2016.52.","DOI":"10.1038\/nrendo.2016.52"},{"key":"2021052023504080090_j_jpem-2019-0476_ref_002_w2aab3b7b5b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Shore, EM, Kaplan, FS. Inherited human diseases of heterotopic bone formation. Nat Rev Rheumatol 2010; 6: 518\u201327. https:\/\/doi.org\/10.1038\/nrrheum.2010.122.","DOI":"10.1038\/nrrheum.2010.122"},{"key":"2021052023504080090_j_jpem-2019-0476_ref_003_w2aab3b7b5b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Mantovani, G, Bastepe, M, Monk, D, de Sanctis, L, Thiele, S, Usardi, A, et al. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement. 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