{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T23:25:44Z","timestamp":1768346744271,"version":"3.49.0"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T00:00:00Z","timestamp":1696896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01\u2010DK105448"],"award-info":[{"award-number":["R01\u2010DK105448"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019481","name":"Southwestern Medical Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019481","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Diabetes mellitus (DM) in children and adolescents is typically caused by type 1 DM, followed by type 2 DM and maturity\u2010onset diabetes of the young (MODY). We report an unusual Asian Indian family in which three members presented with DM at ages 15, 20, and 30, but not fitting the typical clinical picture of type 1 DM, type 2 DM, or MODY. The primary objective was to elucidate the molecular genetic basis of DM in this family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The proband, a 22\u2010year\u2010old man, had short stature, gray hair, osteoporosis, and markedly reduced subcutaneous fat on the body, especially on the extremities along with acanthosis nigricans, and developed myxoid malignant peripheral nerve sheath tumor. Detailed family history revealed multiple loops of consanguinity. The proband underwent whole\u2010genome sequencing, and seven relatives underwent whole\u2010exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband and three additional family members were found to have the homozygous c.561A&gt;G nucleotide variant of WRN RecQ\u2010like helicase (<jats:italic>WRN<\/jats:italic>) gene consistent with the diagnosis of Werner's syndrome. The c.561A&gt;G variant induces a new splicing site on exon 6 resulting in a truncated WRN protein, p.Lys187Trpfs*13.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our report brings to attention the onset of DM during childhood or early adulthood in patients with Werner's syndrome who typically develop type 2 DM around the age of 30\u201340\u2009years. Presence of consanguinity among parents, dysmorphic features, and malignancy should prompt consideration of diagnosis of Werner's syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2299","type":"journal-article","created":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T03:36:12Z","timestamp":1697081772000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Early\u2010onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7128-1255","authenticated-orcid":false,"given":"Fieke W.","family":"Hoff","sequence":"first","affiliation":[{"name":"Department of Internal Medicine University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Xing","sequence":"additional","affiliation":[{"name":"McDermott Center for Human Growth and Development University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinaya","family":"Simha","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anil K.","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Section of Nutrition and Metabolic Diseases, Division of Endocrinology, Department of Internal Medicine and the Center for Human Nutrition University of Texas Southwestern Medical Center  Texas Dallas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xunzhi","family":"Zhang","sequence":"additional","affiliation":[{"name":"McDermott Center for Human Growth and Development University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leena","family":"Lekkala","sequence":"additional","affiliation":[{"name":"Samatvam Endocrinology Diabetes Center, Jnana Sanjeevini Diabetes Hospital and Medical Center  Bengaluru India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madhumati S.","family":"Vaishnav","sequence":"additional","affiliation":[{"name":"Samatvam Endocrinology Diabetes Center, Jnana Sanjeevini Diabetes Hospital and Medical Center  Bengaluru India"},{"name":"Center for Nano Science and Engineering, Indian Institute of Science  Bengaluru India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Vuitch","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7209-6986","authenticated-orcid":false,"given":"Abhimanyu","family":"Garg","sequence":"additional","affiliation":[{"name":"Section of Nutrition and Metabolic Diseases, Division of Endocrinology, Department of Internal Medicine and the Center for Human Nutrition University of Texas Southwestern Medical Center  Texas Dallas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,10,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacl.2022.06.004"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001025"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19860515)57:10<2006::AID-CNCR2820571022>3.0.CO;2-6"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-196605000-00001"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199303113281005"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra025261"},{"issue":"4","key":"e_1_2_10_9_1","first-page":"239","article-title":"Excess of rare cancers in Werner syndrome (adult progeria)","volume":"5","author":"Goto M.","year":"1996","journal-title":"Cancer Epidemiology, Biomarkers & Prevention"},{"key":"e_1_2_10_10_1","volume-title":"Radiographic atlas of skeletal development of the hand and wrist","author":"Greulich W. 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