{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T16:26:02Z","timestamp":1789403162564,"version":"build-2803163510"},"reference-count":10,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,6,24]]},"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:p>A 20-year-old woman was referred to the diabetes clinic with type 2 diabetes diagnosed at the age of 19. Her body mass index was 31.4 kg\/m<jats:sup>2<\/jats:sup>, HbA1C was 76\u2009mmol\/mol, GAD antibodies were negative with a detectable C-peptide. She had a characteristic facial appearance with widespread eyes, posterior hairline suggesting a facial gestalt and abnormal dentition. She also had hypothyroidism, mild intellectual disability, primary amenorrhoea and patent ductus arteriosus. Karyotyping reported normal 46XX karyotype. Genetic testing revealed a pathogenic variant in the gene encoding the HIST1H1E protein which confirmed her diagnosis of HIST1H1E syndrome. Type 2 diabetes has not been reported in previous cases of HIST1H1E and so this is the first reported case of type 2 diabetes with HIST1H1E syndrome.<\/jats:p>","DOI":"10.1136\/bcr-2021-241907","type":"journal-article","created":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T12:57:59Z","timestamp":1626872279000},"page":"e241907","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["HIST1H1E syndrome with type 2 diabetes"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0806-4020","authenticated-orcid":false,"given":"Mohammed S O","family":"Ahmed","sequence":"first","affiliation":[{"name":"Academic Department of Endocrinology, Beaumont Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Rafey","sequence":"additional","affiliation":[{"name":"Academic Department of Endocrinology, Beaumont Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"McDonnell","sequence":"additional","affiliation":[{"name":"Academic Department of Endocrinology, Beaumont Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diarmuid","family":"Smith","sequence":"additional","affiliation":[{"name":"Academic Department of Endocrinology, Beaumont Hospital, Dublin, Ireland"},{"name":"Royal College of Surgeons in Ireland, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,7,21]]},"reference":[{"key":"2025082802112634000_14.7.e241907.1","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1002\/ajmg.a.61321","article-title":"HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: a study to clarify the HIST1H1E syndrome phenotype in 30 individuals","volume":"179","author":"Burkardt","year":"2019","journal-title":"Am J Med Genet A"},{"key":"2025082802112634000_14.7.e241907.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.03.010"},{"key":"2025082802112634000_14.7.e241907.3","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1002\/ajmg.b.32631","article-title":"Epigenetics and autism spectrum disorder: a report of an autism case with mutation in H1 linker histone HIST1H1E and literature review","volume":"177","author":"Duffney","year":"2018","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"2025082802112634000_14.7.e241907.4","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1002\/ajmg.a.38616","article-title":"Growth pattern of Rahman syndrome","volume":"176","author":"Takenouchi","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2025082802112634000_14.7.e241907.5","unstructured":"Burkardt D , Tatton-Brown K . HIST1H1E Syndrome. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle, 2020."},{"key":"2025082802112634000_14.7.e241907.6","unstructured":"OMIM Entry - # 601803 - PALLISTER-KILLIAN SYNDROME; PKS [Internet]. Omim.org. Available: https:\/\/omim.org\/entry\/601803 [Accessed cited 2020 Dec 30]."},{"key":"2025082802112634000_14.7.e241907.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.07.007"},{"key":"2025082802112634000_14.7.e241907.8","unstructured":"Bohlega SA , Alkuraya FS . Woodhouse-Sakati Syndrome. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle, 2016."},{"key":"2025082802112634000_14.7.e241907.9","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102877"},{"key":"2025082802112634000_14.7.e241907.10","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1159\/000503175","article-title":"A novel polymorphism (rs35612982) in CDKAL1 is a risk factor of type 2 diabetes: a case-control study","volume":"44","author":"Tian","year":"2019","journal-title":"Kidney Blood Press Res"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-241907","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:11:34Z","timestamp":1756372294000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-241907"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":10,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,7,21]]},"published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1136\/bcr-2021-241907"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-241907","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7]]}}}