{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T11:45:57Z","timestamp":1778154357554,"version":"3.51.4"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/deed.en_GB"}],"content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes and usually presents in the first 6 months of life. We aimed to describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM patients from a single centre and estimate an annual incidence rate of NDM in South-Eastern Anatolian region of Turkey.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design and methods<\/jats:title><jats:p>NDM patients presenting to Diyarbakir Children State Hospital between 2010 and 2013, and patients under follow-up with presumed type 1 diabetes mellitus, with onset before 6 months of age were recruited. Molecular genetic analysis was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty-two patients (59% males) were diagnosed with NDM (TNDM-5; PNDM-17). Molecular genetic analysis identified a mutation in 20 (95%) patients who had undergone a mutation analysis. In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormalities (<jats:italic>n<\/jats:italic>=3),<jats:italic>ABCC8<\/jats:italic>(<jats:italic>n<\/jats:italic>=1) and homozygous<jats:italic>INS<\/jats:italic>(<jats:italic>n<\/jats:italic>=1). In permanent neonatal diabetes (PNDM) patients, homozygous<jats:italic>GCK<\/jats:italic>(<jats:italic>n<\/jats:italic>=6),<jats:italic>EIF2AK3<\/jats:italic>(<jats:italic>n<\/jats:italic>=3),<jats:italic>PTF1A<\/jats:italic>(<jats:italic>n<\/jats:italic>=3), and<jats:italic>INS<\/jats:italic>(<jats:italic>n<\/jats:italic>=1) and heterozygous<jats:italic>KCNJ11<\/jats:italic>(<jats:italic>n<\/jats:italic>=2) mutations were identified. Pancreatic exocrine dysfunction was observed in patients with mutations in the distal<jats:italic>PTF1A<\/jats:italic>enhancer. Both patients with a<jats:italic>KCNJ11<\/jats:italic>mutation responded to oral sulphonylurea. A variable phenotype was associated with the homozygous c.-331C&gt;A<jats:italic>INS<\/jats:italic>mutation, which was identified in both a PNDM and TNDM patient. The annual incidence of PNDM in South-East Anatolian region of Turkey was one in 48\u200a000 live births.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Homozygous mutations in<jats:italic>GCK<\/jats:italic>,<jats:italic>EIF2AK3<\/jats:italic>and the distal enhancer region of<jats:italic>PTF1A<\/jats:italic>were the commonest causes of NDM in our cohort. The high rate of detection of a mutation likely reflects the contribution of new genetic techniques (targeted next-generation sequencing) and increased consanguinity within our cohort.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-14-0852","type":"journal-article","created":{"date-parts":[[2015,3,10]],"date-time":"2015-03-10T02:22:02Z","timestamp":1425954122000},"page":"697-705","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":52,"title":["Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations"],"prefix":"10.1093","volume":"172","author":[{"given":"Huseyin","family":"Demirbilek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ved Bhushan","family":"Arya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet Nuri","family":"Ozbek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jayne A L","family":"Houghton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riza Taner","family":"Baran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melek","family":"Akar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selahattin","family":"Tekes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heybet","family":"Tuzun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah J","family":"Mackay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah E","family":"Flanagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew T","family":"Hattersley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Hussain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","reference":[{"key":"1_50396892","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1159\/000354219","volume":"80","year":"2013","journal-title":"HORMONE RESEARCH IN PAEDIATRICS"},{"key":"2_50396893","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/S1084-2756(03)00064-2","volume":"9","year":"2004","journal-title":"SEMINARS IN NEONATOLOGY"},{"key":"3_50396894","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1007\/s11154-010-9150-4","volume":"11","year":"2010","journal-title":"REVIEWS IN ENDOCRINE METABOLIC DISORDERS"},{"key":"4_44021728","first-page":"335","volume":"154","year":"2010","journal-title":"American journal of medical genetics. 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