{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T03:40:45Z","timestamp":1784346045971,"version":"3.55.0"},"reference-count":99,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,8,23]],"date-time":"2019-08-23T00:00:00Z","timestamp":1566518400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Neonatal diabetes mellitus (NDM) is a rare condition that occurs within the first six months of life. Permanent NDM (PNDM) is caused by mutations in specific genes that are known for their expression at early and\/or late stages of pancreatic beta\u2010 cell development, and are either involved in beta\u2010cell survival, insulin processing, regulation, and release. The native population in Qatar continues to practice consanguineous marriages that lead to a high level of homozygosity. To our knowledge, there is no previous report on the genomics of NDM among the Qatari population. The aims of the current study are to identify patients with NDM diagnosed between 2001 and 2016, and examine their clinical and genetic characteristics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>To calculate the incidence of PNDM, all patients with PNDM diagnosed between 2001 and 2016 were compared to the total number of live births over the 16\u2010year\u2010period. Whole Genome Sequencing (WGS) was used to investigate the genetic etiology in the PNDM cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>PNDM was diagnosed in nine (<jats:italic>n<\/jats:italic>\u00a0=\u00a09) patients with an estimated incidence rate of 1:22,938 live births among the indigenous Qatari. Seven different mutations in six genes (<jats:italic>PTF1A, GCK, SLC2A2, EIF2AK3, INS,<\/jats:italic> and<jats:italic> HNF1B<\/jats:italic>) were identified. In the majority of cases, the genetic etiology was part of a previously identified autosomal recessive disorder. Two novel de novo mutations were identified in <jats:italic>INS<\/jats:italic> and <jats:italic>HNF1B<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Qatar has the second highest reported incidence of PNDM worldwide. A majority of PNDM cases present as rare familial autosomal recessive disorders. Pancreas associated transcription factor 1a (<jats:italic>PTF1A)<\/jats:italic> enhancer deletions are the most common cause of PNDM in Qatar, with only a few previous cases reported in the literature.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.753","type":"journal-article","created":{"date-parts":[[2019,8,23]],"date-time":"2019-08-23T10:08:50Z","timestamp":1566554930000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3010-309X","authenticated-orcid":false,"given":"Sara","family":"Al\u2010Khawaga","sequence":"first","affiliation":[{"name":"College of Health &amp; Life Sciences Hamad Bin Khalifa University, Qatar Foundation Doha Qatar"},{"name":"Division of Endocrinology, Department of Pediatric Medicine Sidra Medicine Doha 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