{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T01:13:34Z","timestamp":1782695614966,"version":"3.54.5"},"reference-count":17,"publisher":"Walter de Gruyter GmbH","issue":"8","funder":[{"name":"Hospital Foundation of Shanghai Sixth People\u2019s Hospital","award":["DY2020001"],"award-info":[{"award-number":["DY2020001"]}]},{"name":"Hospital Foundation of Shanghai Sixth People\u2019s Hospital","award":["ynts202210"],"award-info":[{"award-number":["ynts202210"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0562_abs_301\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Pseudohypoparathyroidism (PHP) comprises a cluster of heterogeneous diseases characterized by hypocalcemia and hyperphosphatemia due to parathyroid hormone (PTH) resistance. PHP type 1B (PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16. STX16 exon 2\u20136 deletion is commonly observed in autosomal dominant (AD)-PHP1B, while sporadic PHP1B commonly results from methylation abnormalities of maternal differentially methylated regions and remains unclear at the molecular level.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0562_abs_401\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 39-year-old male patient with PHP1B, who had his first seizure at 15 years of age, presented to our hospital. The methylation-specific multiplex ligation-dependent probe amplification results showed a half-reduced copy number of STX16 exon 5\u20137 and loss of methylation at GNAS exon A\/B. His mother also had a half-reduced copy number of STX16 exon 5\u20137 but with normal methylation of GNAS. His father has a normal copy number of STX16 and normal methylation of GNAS.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0562_abs_501\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>For the recognition and early diagnosis of this kind of disease, here we report the clinical symptoms, auxiliary examinations, genetic testing characteristics, and treatment of the patient.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0562","type":"journal-article","created":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T07:23:41Z","timestamp":1721373821000},"page":"734-740","source":"Crossref","is-referenced-by-count":3,"title":["<i>STX16<\/i> exon 5\u20137 deletion in a patient with pseudohypoparathyroidism type 1B"],"prefix":"10.1515","volume":"37","author":[{"given":"Li","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology , Shanghai Sixth People\u2019s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine , Shanghai , China"},{"name":"Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuanbin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology , Shanghai Sixth People\u2019s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine , Shanghai , China"},{"name":"Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxiao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology , Shanghai Sixth People\u2019s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine , Shanghai , China"},{"name":"Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beibei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , The First Affiliated Hospital of Henan University , Henan Province , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peibing","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Neurology , Shanghai Sixth People\u2019s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine , Shanghai , China"},{"name":"Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology , Shanghai Sixth People\u2019s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine , Shanghai , China"},{"name":"Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjing","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , Shanghai Sixth People\u2019s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Neurology , Shanghai Sixth People\u2019s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine , Shanghai , China"},{"name":"Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofang","family":"Yue","sequence":"additional","affiliation":[{"name":"Department of Neurology , Shanghai Sixth People\u2019s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine , Shanghai , China"},{"name":"Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiajun","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology , Shanghai Sixth People\u2019s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine , Shanghai , China"},{"name":"Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2024,7,22]]},"reference":[{"key":"2024081211232795886_j_jpem-2023-0562_ref_001","doi-asserted-by":"crossref","unstructured":"Unluturk, U, Harmanci, A, Babaoglu, M, Yasar, U, Varli, K, Bastepe, M, et al.. 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