{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:28:34Z","timestamp":1760956114505,"version":"3.41.2"},"reference-count":6,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T00:00:00Z","timestamp":1623196800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in <jats:italic>BLM<\/jats:italic> (BLM RecQ like helicase gene)(NM_000057.4) c.692T&amp;gt;G, which may expand the spectrum of <jats:italic>BLM<\/jats:italic> variants.<\/jats:p>","DOI":"10.3389\/fendo.2021.524242","type":"journal-article","created":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T18:12:37Z","timestamp":1623262357000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Diabetes in Chinese Bloom Syndrome"],"prefix":"10.3389","volume":"12","author":[{"given":"Mingqun","family":"Deng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miao","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruizhi","family":"Jiajue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinhua","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,6,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1159\/000452082","article-title":"Bloom\u2019s Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition","volume":"8","author":"Cunniff","year":"2017","journal-title":"Mol Syndromology"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.0578-1310.2018.05.013","article-title":"Clinical and Molecular Analysis of Two Chinese Siblings With Bloom Syndrome","volume":"56","author":"Wu","year":"2018","journal-title":"Chin J Pediatr"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1159\/000093826","article-title":"Evaluation of Short Stature, Carbohydrate Metabolism and Other Endocrinopathies in Bloom\u2019s Syndrome","volume":"66","author":"Diaz","year":"2006","journal-title":"Hormone Res"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03088.x","article-title":"Insulin-Dependent Diabetes Developed in a Young Man With Bloom\u2019s Syndrome","volume":"40","author":"Kondo","year":"1991","journal-title":"Clin Genet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1016\/j.cbi.2009.03.001","article-title":"Assessment of Genomic Instability in Normal and Diabetic Rats Treated With Metformin","volume":"180","author":"Attia","year":"2009","journal-title":"Chem Biol Interact"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20501","article-title":"Syndrome-Causing Mutations of the BLM Gene in Persons in the Bloom\u2019s Syndrome Registry","volume":"28","author":"German","year":"2007","journal-title":"Hum Mutat"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2021.524242\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T18:12:39Z","timestamp":1623262359000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2021.524242\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,9]]},"references-count":6,"alternative-id":["10.3389\/fendo.2021.524242"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2021.524242","relation":{},"ISSN":["1664-2392"],"issn-type":[{"type":"electronic","value":"1664-2392"}],"subject":[],"published":{"date-parts":[[2021,6,9]]},"article-number":"524242"}}