{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T11:45:56Z","timestamp":1778154356674,"version":"3.51.4"},"reference-count":30,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,1,26]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"j_jpem-2017-0284_s_999_w2aab3b7c33b1b6b1aab1c16b1Aa\"><jats:title>Background:<\/jats:title><jats:p>Neonatal diabetes mellitus (NDM) is a rare disorder worldwide where diabetes is diagnosed in the first 6 months of life. However, Oman has a relatively high incidence of NDM.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2017-0284_s_998_w2aab3b7c33b1b6b1aab1c16b2Aa\"><jats:title>Methods:<\/jats:title><jats:p>In this study, we investigated the genetic etiologies underlying NDM and their prevalence in Oman. We collected a cohort of 24 NDM patients, with and without genetic diagnosis, referred to our center from 2007 to 2015. All patients without a genetic diagnosis were tested for mutations in 23 NDM-associated genes using a custom-targeted next-generation sequencing (NGS) panel and methylation analysis of the 6q24 locus.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2017-0284_s_997_w2aab3b7c33b1b6b1aab1c16b3Aa\"><jats:title>Results:<\/jats:title><jats:p>A genetic abnormality was detected in 15\/24 (62.5%) of our Omani NDM patients. We report the detection of 6q24 methylation abnormalities and<jats:italic>KCNJ11<\/jats:italic>mutations for the first time in Omani NDM patients. Unlike Western populations where NDM is predominantly due to mutations in the<jats:italic>KCNJ11<\/jats:italic>,<jats:italic>ABCC8<\/jats:italic>and<jats:italic>INS<\/jats:italic>genes, NDM due to homozygous<jats:italic>GCK<\/jats:italic>gene mutations were most prevalent in Oman, having been observed in seven out of 15 NDM patients in whom we established the genetic etiology. This reflects the high degree of consanguinity which makes recessive conditions more likely.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2017-0284_s_996_w2aab3b7c33b1b6b1aab1c16b4Aa\"><jats:title>Conclusions:<\/jats:title><jats:p>The results of this study are likely to impact any future strategy to introduce genetic testing for NDM disorders within the national healthcare system in Oman.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2017-0284","type":"journal-article","created":{"date-parts":[[2018,1,12]],"date-time":"2018-01-12T22:15:54Z","timestamp":1515795354000},"page":"195-204","source":"Crossref","is-referenced-by-count":16,"title":["Genetic mutations associated with neonatal diabetes mellitus in Omani patients"],"prefix":"10.1515","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2166-1273","authenticated-orcid":false,"given":"Aisha","family":"Al Senani","sequence":"first","affiliation":[{"name":"National Diabetes and Endocrine Center, Royal Hospital, Ministry of Health , Muscat , Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nishath","family":"Hamza","sequence":"additional","affiliation":[{"name":"National Genetic Center, Royal Hospital, Ministry of Health, Muscat , Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanan","family":"Al Azkawi","sequence":"additional","affiliation":[{"name":"National Diabetes and Endocrine Center, Royal Hospital, Ministry of Health , Muscat , Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manal","family":"Al Kharusi","sequence":"additional","affiliation":[{"name":"National Genetic Center, Royal Hospital, Ministry of Health, Muscat , Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nashat","family":"Al Sukaiti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Allergy and Clinical Immunology Unit, Royal Hospital, Ministry of Health , Muscat , Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Al Badi","sequence":"additional","affiliation":[{"name":"National Diabetes and Endocrine Center, Royal Hospital, Ministry of Health , Muscat , Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moza","family":"Al Yahyai","sequence":"additional","affiliation":[{"name":"National Diabetes and Endocrine Center, Royal Hospital, Ministry of Health , Muscat , Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Johnson","sequence":"additional","affiliation":[{"name":"University of Exeter Medical School, Institute of Biomedical and Clinical Science , Exeter , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"De Franco","sequence":"additional","affiliation":[{"name":"University of Exeter Medical School, Institute of Biomedical and Clinical Science , Exeter , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Flanagan","sequence":"additional","affiliation":[{"name":"University of Exeter Medical School, Institute of Biomedical and Clinical Science , Exeter , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Hattersley","sequence":"additional","affiliation":[{"name":"University of Exeter Medical School, Institute of Biomedical and Clinical Science , Exeter , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[{"name":"University of Exeter Medical School, Institute of Biomedical and Clinical Science , Exeter , UK"},{"name":"Royal Devon and Exeter Hospital , Molecular Genetics Laboratory , Exeter , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waad-Allah","family":"Mula-Abed","sequence":"additional","affiliation":[{"name":"National Genetic Center, Royal Hospital, Ministry of Health, Muscat , Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2018,1,12]]},"reference":[{"key":"2021021317335473773_j_jpem-2017-0284_ref_001_w2aab3b7c33b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Bappal B, Raghupathy P, de Silva V, Khusaiby SM. 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