{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:57:50Z","timestamp":1760147870133,"version":"build-2065373602"},"reference-count":100,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T00:00:00Z","timestamp":1678147200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Khalifa University","award":["KUIRFL1-2015"],"award-info":[{"award-number":["KUIRFL1-2015"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biology"],"abstract":"<jats:p>Type 1 diabetes mellitus (T1DM) is a chronic autoimmune disease characterized by insulin deficiency and loss of pancreatic islet \u03b2-cells. The objective of this study is to identify de novo mutations in 13 trios from singleton families that contribute to the genetic basis of T1DM through the application of whole-exome sequencing (WES). Of the 13 families sampled for this project, 12 had de novo variants, with Family 7 having the highest number (nine) of variants linked to T1DM\/autoimmune pathways, whilst Family 4 did not have any variants past the filtering steps. There were 10 variants of 7 genes reportedly associated with T1DM (MST1; TDG; TYRO3; IFIHI; GLIS3; VEGFA; TYK2). There were 20 variants of 13 genes that were linked to endocrine, metabolic, or autoimmune diseases. Our findings demonstrate that trio-based WES is a powerful approach for identifying new candidate genes for the pathogenesis of T1D. Genotyping and functional annotation of the discovered de novo variants in a large cohort is recommended to ascertain their association with disease pathogenesis.<\/jats:p>","DOI":"10.3390\/biology12030413","type":"journal-article","created":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T02:08:14Z","timestamp":1678241294000},"page":"413","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Whole-Exome Sequencing in Family Trios Reveals De Novo Mutations Associated with Type 1 Diabetes Mellitus"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5676-3221","authenticated-orcid":false,"given":"Mira","family":"Mousa","sequence":"first","affiliation":[{"name":"Center of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Albarguthi","sequence":"additional","affiliation":[{"name":"Center of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates"},{"name":"Department of Biomedical Engineering, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Albreiki","sequence":"additional","affiliation":[{"name":"Center of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zenab","family":"Farooq","sequence":"additional","affiliation":[{"name":"College of Medicine and Health Sciences, Khalifa University, Abu Dhabi 127788, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sameeha","family":"Sajid","sequence":"additional","affiliation":[{"name":"College of Medicine and Health Sciences, Khalifa University, Abu Dhabi 127788, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"El Hajj Chehadeh","sequence":"additional","affiliation":[{"name":"Center of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gihan Daw","family":"ElBait","sequence":"additional","affiliation":[{"name":"Center of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guan","family":"Tay","sequence":"additional","affiliation":[{"name":"Center of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asma Al","family":"Deeb","sequence":"additional","affiliation":[{"name":"College of Medicine and Health Sciences, Khalifa University, Abu Dhabi 127788, United Arab Emirates"},{"name":"Department of Endocrinology, Mafraq Hospital, Abu Dhabi 127788, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7141-1438","authenticated-orcid":false,"given":"Habiba","family":"Alsafar","sequence":"additional","affiliation":[{"name":"Center of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates"},{"name":"Department of Biomedical Engineering, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.immuni.2010.04.001","article-title":"Etiology of type 1 diabetes","volume":"32","author":"Todd","year":"2010","journal-title":"Immunity"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0140-6736(13)60591-7","article-title":"Type 1 diabetes","volume":"383","author":"Atkinson","year":"2014","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"17016","DOI":"10.1038\/nrdp.2017.16","article-title":"Type 1 diabetes mellitus","volume":"3","author":"Katsarou","year":"2017","journal-title":"Nat. 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