{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T22:50:38Z","timestamp":1793573438321,"version":"4.5.0"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T00:00:00Z","timestamp":1698451200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T00:00:00Z","timestamp":1698451200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100007543","name":"Grantov\u00e1 Agentura, Univerzita Karlova","doi-asserted-by":"publisher","award":["340420"],"award-info":[{"award-number":["340420"]}],"id":[{"id":"10.13039\/100007543","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Diabetologia"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Aims\/hypothesis<\/jats:title>\n                <jats:p>Monogenic diabetes is estimated to account for 1\u20136% of paediatric diabetes cases in primarily non-consanguineous populations, while the incidence and genetic spectrum in consanguineous regions are insufficiently defined. In this single-centre study we aimed to evaluate diabetes subtypes, obtain the consanguinity rate and study the genetic background of individuals with syndromic and neonatal diabetes in a population with a high rate of consanguinity.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Data collection was carried out cross-sectionally in November 2021 at the paediatric diabetic clinic, Dr Jamal Ahmad Rashed Hospital, in Sulaimani, Kurdistan, Iraq. At the time of data collection, 754 individuals with diabetes (381 boys) aged up to 16 years were registered. Relevant participant data was obtained from patient files. Consanguinity status was known in 735 (97.5%) participants. Furthermore, 12 families of children with neonatal diabetes and seven families of children with syndromic diabetes consented to genetic testing by next-generation sequencing. Prioritised variants were evaluated using the American College of Medical Genetics and Genomics guidelines and confirmed by Sanger sequencing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>A total of 269 of 735 participants (36.5%)\u00a0with known consanguinity status were offspring of consanguineous families. An overwhelming majority of participants (714\/754, 94.7%) had clinically defined type 1 diabetes (35% of them were born to consanguineous parents), whereas only eight (1.1%) had type 2 diabetes (38% consanguineous). Fourteen (1.9%) had neonatal diabetes (50% consanguineous), seven (0.9%) had syndromic diabetes (100% consanguineous) and 11 (1.5%) had clinically defined MODY (18% consanguineous). We found that consanguinity was significantly associated with syndromic diabetes (<jats:italic>p<\/jats:italic>=0.0023) but not with any other diabetes subtype. The genetic cause was elucidated in ten of 12 participants with neonatal diabetes who consented to genetic testing (homozygous variants in <jats:italic>GLIS3<\/jats:italic> [sibling pair], <jats:italic>PTF1A<\/jats:italic> and <jats:italic>ZNF808<\/jats:italic> and heterozygous variants in <jats:italic>ABCC8<\/jats:italic> and <jats:italic>INS<\/jats:italic>) and four of seven participants with syndromic diabetes (homozygous variants in <jats:italic>INSR<\/jats:italic>, <jats:italic>SLC29A3<\/jats:italic> and <jats:italic>WFS1<\/jats:italic> [sibling pair]). In addition, a participant referred as syndromic diabetes was diagnosed with mucolipidosis gamma and probably has type 2 diabetes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions\/interpretation<\/jats:title>\n                <jats:p>This unique single-centre study confirms that, even in a highly consanguineous population, clinically defined type 1 diabetes is the prevailing paediatric diabetes subtype. Furthermore, a pathogenic cause of monogenic diabetes was identified in 83% of tested participants with neonatal diabetes and 57% of participants with syndromic diabetes, with most variants being homozygous. Causative genes in our consanguineous participants were markedly different from genes reported from non-consanguineous populations and also from those reported in other consanguineous populations. To correctly diagnose syndromic diabetes in consanguineous populations, it may be necessary to re-evaluate diagnostic criteria and include additional phenotypic features such as short stature and hepatosplenomegaly.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Graphical Abstract<\/jats:title>\n                \n              <\/jats:sec>","DOI":"10.1007\/s00125-023-06030-2","type":"journal-article","created":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T07:02:36Z","timestamp":1698476556000},"page":"113-123","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq"],"prefix":"10.1007","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3388-5824","authenticated-orcid":false,"given":"Shenali A.","family":"Amaratunga","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0687-7335","authenticated-orcid":false,"given":"Tara","family":"Hussein Tayeb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rozhan N.","family":"Muhamad Sediq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fareda K.","family":"Hama Salih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8647-9088","authenticated-orcid":false,"given":"Petra","family":"Dusatkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6542-9241","authenticated-orcid":false,"given":"Matthew N.","family":"Wakeling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1437-7891","authenticated-orcid":false,"given":"Elisa","family":"De Franco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2076-115X","authenticated-orcid":false,"given":"Stepanka","family":"Pruhova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3365-5375","authenticated-orcid":false,"given":"Jan","family":"Lebl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,10,28]]},"reference":[{"issue":"2","key":"6030_CR1","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.diabres.2013.11.005","volume":"103","author":"C Patterson","year":"2014","unstructured":"Patterson C, Guariguata L, Dahlquist G, Solt\u00e9sz G, Ogle G, Silink M (2014) Diabetes in the young - a global view and worldwide estimates of numbers of children with type 1 diabetes. 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In addition, we thank our laboratory workers K. Vesel\u00e1, L. Elblov\u00e1 and K. Kol\u00e1\u0159ov\u00e1 (Department of Paediatrics, Motol University Hospital, Prague, Czech Republic) for their invaluable contributions to the genetic analysis including the WES methods. Some of the data were presented as an abstract at the European Society for Paediatric Endocrinology meeting in 2022.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Acknowledgements"}},{"value":"The data that support the findings of this study are not openly available because of institutional ethics restrictions but are available from the corresponding author on reasonable request.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Data availability"}},{"value":"This study was supported by the Charles University Grant Agency (GA UK grant no. 340420) and by the project for the conceptual development of research organization (Motol University Hospital, Prague, Czech Republic, 00064203). EDF is a Diabetes UK RD Lawrence fellow (19\/005971).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Funding"}},{"value":"The authors declare that there are no relationships or activities that might bias, or be perceived to bias, their work.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Authors\u2019 relationships and activities"}},{"value":"All authors contributed to the study concept and design. SAA performed the data analysis, including NGS variant analysis, and wrote the manuscript. THT, RNMS and FKHS, who are local Kurdish physicians, complied comprehensive patient data from the study centre. In addition, THT referred participants for genetic testing and provided further clinical information. PD was responsible for NGS and provided insight into the variant analysis. EDF and MNW carried out further NGS variant analysis in participants who had negative genetic results and contributed to overall data interpretation. All authors contributed to the discussion, reviewed or edited the manuscript and approved the final version for publication. JL is responsible for the integrity of the work as a whole.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Contribution statement"}}]}}