{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T15:47:52Z","timestamp":1783784872670,"version":"3.55.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,1,20]],"date-time":"2023-01-20T00:00:00Z","timestamp":1674172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2023,5]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Pseudohypoparathyroidism (PHP) is a series of diseases related to pathological changes and neurocognitive and endocrine abnormalities, mainly due to the GNAS<\/jats:italic> mutation on chromosome 20q13.2, which weakens receptor\u2010mediated hormone signal transduction. Considering its complex genetic and epigenetic characteristics, GNAS<\/jats:italic> may produce complex clinical phenotypes in families or sporadic cases. This study presented a case of familial PHP caused by a deletion mutation in the 20q13.2 region.<\/jats:p><\/jats:sec>Methods and Results<\/jats:title>The proband and her second daughter had PHP, and the proband's mother had pseudo\u2010PHP. Whole\u2010genome sequencing revealed that the proband had an 849.81\u2009kb deletion spanning GNAS<\/jats:italic> near the maternal 20q13.2 chromosome. Multiplex ligation\u2010dependent probe amplification methylation analysis indicated that the proband as well as her mother and second daughter had seemingly abnormal GNAS<\/jats:italic> methylation. This is different from the phenotype (feeding difficulty, slow growth, and special facial features) of previously reported cases with the deletion of fragments near the 20q13.2 chromosome.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>This report demonstrated the variability of 20q13.2 deletion phenotypes and the clinical importance of using multiple molecular genetic detection methods.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2144","type":"journal-article","created":{"date-parts":[[2023,1,21]],"date-time":"2023-01-21T02:19:05Z","timestamp":1674267545000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Whole\u2010genome sequencing revealed a novel long\u2010range deletion mutation spanning GNAS<\/i><\/scp> in familial pseudohypoparathyroidism"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0447-8672","authenticated-orcid":false,"given":"Yangfan","family":"Fei","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism Meishan Municipal People's Hospital Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lv","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Meishan Municipal People's Hospital Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lixia","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Meishan Municipal People's Hospital Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ou","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission Peking 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