{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:53Z","timestamp":1784557073925,"version":"3.55.0"},"reference-count":10,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,9,1]]},"abstract":"\n Summary<\/jats:title>\n \n Hepatocyte nuclear factor 1\u03b2 (\n HNF1B<\/jats:italic>\n ) gene is located on chromosome 17q12. It is a transcription factor implicated in the early embryonic development of multiple organs.\n HNF1B<\/jats:italic>\n -associated disease is a multi-system disorder with variable clinical phenotypes. There are increasing reports suggesting that the 17q12 deletion syndrome should be suspected in patients with maturity-onset diabetes of the young type 5 (MODY5) due to the deletion of\n HNF1B<\/jats:italic>\n gene. In contrast to classical 17q12 syndrome in childhood with neurological disorders and autism, patients with\n HNF1B<\/jats:italic>\n -MODY deletion rarely had neuropsychological disorders or learning disabilities. The diagnosis of 17q12 deletion syndrome highlighted the phenotypic heterogeneity of\n HNF1B<\/jats:italic>\n -MODY patients. In this study, we report the clinical course of a Thai woman with young-onset diabetes mellitus and hypertriglyceridemia as a predominant feature due to\n HNF1B<\/jats:italic>\n deletion as part of the 17q12 deletion syndrome. Our findings and others suggest that hypertriglyceridemia should be considered a syndromic feature of\n HNF1B<\/jats:italic>\n -MODY. Our case also highlights the need to use sequencing with dosage analyses to detect point mutations and copy number variations to avoid missing a whole deletion of\n HNF1B<\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n \n Maturity-onset diabetes of the young type 5 (MODY5) may be caused by heterozygous point mutations or whole gene deletion of\n HNF1B<\/jats:italic>\n . Recent studies revealed that complete deletion of the\n HNF1B<\/jats:italic>\n gene may be part of the 17q12 deletion syndrome with multi-system involvement.\n <\/jats:p>\n <\/jats:list-item>\n \n \n The length of the deletion can contribute to the phenotypic variability in patients with\n HNF1B<\/jats:italic>\n -MODY due to whole gene deletion.\n <\/jats:p>\n <\/jats:list-item>\n \n \n Using next-generation sequencing alone to diagnose MODY could miss a whole gene deletion or copy number variations. Specialized detection methods such as microarray analysis or low-pass whole genome sequencing are required to accurately diagnose\n HNF1B<\/jats:italic>\n -MODY as a component of the 17q12 deletion syndrome.\n <\/jats:p>\n <\/jats:list-item>\n \n \n Molecular diagnosis is necessary to distinguish other acquired cystic kidney diseases in patients with type 2 diabetes which could phenocopy\n HNF1B<\/jats:italic>\n -MODY.\n <\/jats:p>\n <\/jats:list-item>\n \n \n Hypertriglyceridemia is a possible metabolic feature in patients with\n HNF1B<\/jats:italic>\n -MODY due to 17q12 deletion syndrome.\n <\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-22-0297","type":"journal-article","created":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T04:59:07Z","timestamp":1663217947000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":4,"title":["Hypertriglyceridemia as a main feature associated with 17q12 deletion syndrome-related hepatocyte nuclear factor 1\u03b2-maturity-onset diabetes of the young"],"prefix":"10.1530","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2317-4041","authenticated-orcid":true,"given":"Yotsapon","family":"Thewjitcharoen","sequence":"first","affiliation":[{"name":"Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soontaree","family":"Nakasatien","sequence":"additional","affiliation":[{"name":"Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsz Fung","family":"Tsoi","sequence":"additional","affiliation":[{"name":"Department of Medicine and Therapeutics, Hong Kong Institute of Diabetes and Obesity and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cadmon K P","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Medicine and Therapeutics, Hong Kong Institute of Diabetes and Obesity and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thep","family":"Himathongkam","sequence":"additional","affiliation":[{"name":"Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana C N","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Medicine and Therapeutics, Hong Kong Institute of Diabetes and Obesity and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China"},{"name":"Asia Diabetes Foundation, Shatin, Hong Kong SAR, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Diabetes Care","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.2337\/dc16-2462","article-title":"Diabetes, associated clinical spectrum, long-term prognosis, and genotype\/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects","volume":"40","author":"Dubois-Laforgue","year":"2017","unstructured":"Dubois-Laforgue DCornu ESaint-Martin CCoste JBellann\u00e9-Chantelot CTimsit J & Monogenic Diabetes Study Group of the Soci\u00e9t\u00e9 Francophone du Diab\u00e8te. 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