{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T20:28:20Z","timestamp":1781900900269,"version":"3.54.5"},"reference-count":50,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T00:00:00Z","timestamp":1765929600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Tunisian Ministry of Public Health, the Institut Pasteur of Tunis","award":["PCI38"],"award-info":[{"award-number":["PCI38"]}]},{"DOI":"10.13039\/501100004792","name":"Ministry of Higher Education and Scientific Research","doi-asserted-by":"publisher","award":["LR16IPT05"],"award-info":[{"award-number":["LR16IPT05"]}],"id":[{"id":"10.13039\/501100004792","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>This study focuses on the genetic and clinical characterization of Monogenic Forms of Diabetes (MFD), which are frequently underdiagnosed or misclassified due to clinical similarities with type 1 and type 2 diabetes. Researchers performed Exome Sequencing on 11 Tunisian patients suspected of having MFD. The pathogenicity of genetic variants was assessed using filtering and bioinformatics prediction tools. The ORVAL online tool was used to predict the likelihood of combinations of pathogenic variants. Sanger sequencing confirmed likely pathogenic predicted variants in patients and assessed familial segregation. We identified 15 potentially pathogenic variants in 14 genes linked to MFD, including MODY-3, and isolated diabetes with low penetrance for Wolfram syndrome. Additionally, syndromic forms such as partial familial lipodystrophy types 2 and 4, and Wolfram syndrome were detected. Five patients exhibited characteristics of unspecified MFD. This study underscores the importance of genetic screening in individuals with diabetes who have a family history of the disease, particularly those with associated comorbidities. Our findings emphasize the crucial role of genetic testing in refining diabetes classification, leading to more accurate diagnoses. Therefore, integrating genetic research into clinical practice is essential to improving healthcare outcomes for patients with diabetes.<\/jats:p>","DOI":"10.3390\/cimb47121055","type":"journal-article","created":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T08:32:27Z","timestamp":1765960347000},"page":"1055","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genomic Insights into Unspecified Monogenic Forms of Diabetes and Their Associated Comorbidities: Implication for Treatment"],"prefix":"10.3390","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3718-7089","authenticated-orcid":false,"given":"Nadia","family":"Kheriji","sequence":"first","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis 1068, Tunisia"},{"name":"University of Tunis El Manar, Tunis 1006, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamza","family":"Dallali","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis 1068, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariem","family":"Gharbi","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis 1068, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Krir","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Biochemistry and Hormonology, Institut Pasteur de Tunis, Tunis 1068, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afef","family":"Bahlous","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Biochemistry and Hormonology, Institut Pasteur de Tunis, Tunis 1068, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3179-1648","authenticated-orcid":false,"given":"Melika","family":"Ben Ahmed","sequence":"additional","affiliation":[{"name":"Laboratory of Transmission, Control and Immunobiology of Infections (LR16IPT02), Department of Clinical Immunology, Institut Pasteur de Tunis, Tunis 1068, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6217-4987","authenticated-orcid":false,"given":"Faten","family":"Mahjoub","sequence":"additional","affiliation":[{"name":"University of Tunis El Manar, Tunis 1006, Tunisia"},{"name":"Research Unit UR18ES01 on \u201cObesity\u201d, Tunis 1007, Tunisia"},{"name":"Department A, National Institute of Nutrition and Food Technology, Tunis 1007, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelmajid","family":"Abid","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis 1068, Tunisia"},{"name":"University of Tunis El Manar, Tunis 1006, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8215-3718","authenticated-orcid":false,"given":"Henda","family":"Jamoussi","sequence":"additional","affiliation":[{"name":"University of Tunis El Manar, Tunis 1006, Tunisia"},{"name":"Research Unit UR18ES01 on \u201cObesity\u201d, Tunis 1007, Tunisia"},{"name":"Department A, National Institute of Nutrition and Food Technology, Tunis 1007, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8801-5781","authenticated-orcid":false,"given":"Rym","family":"Kefi","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis 1068, Tunisia"},{"name":"University of Tunis El Manar, Tunis 1006, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,12,17]]},"reference":[{"key":"ref_1","unstructured":"IDF Diabetes Atlas 2025. 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