{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:24:33Z","timestamp":1791476673184,"version":"4.3.4"},"reference-count":13,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,8,17]],"date-time":"2016-08-17T00:00:00Z","timestamp":1471392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000276","name":"Department of Health","doi-asserted-by":"publisher","award":["091985\/HICF 1009\u2010041"],"award-info":[{"award-number":["091985\/HICF 1009\u2010041"]}],"id":[{"id":"10.13039\/501100000276","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Diabet. Med."],"published-print":{"date-parts":[[2016,9]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>A syndrome of young\u2010onset diabetes mellitus associated with microcephaly, epilepsy and intellectual disability caused by mutations in the tRNA<\/jats:styled-content> methyltransferase 10 homologue A (TRMT<\/jats:styled-content>10A<\/jats:italic>) gene has recently been described.<\/jats:p><\/jats:sec>Case report<\/jats:title>We report two siblings from the fourth family reported to have diabetes mellitus as a result of a TRMT<\/jats:styled-content>10A<\/jats:italic> mutation. A homozygous nonsense mutation p.Glu27Ter in TRMT<\/jats:styled-content>10A<\/jats:italic> was identified using targeted next\u2010generation sequencing and confirmed by PCR<\/jats:styled-content>\/Sanger sequencing. Diabetes was diagnosed while the subjects were in their 20s and was characterized by insulin resistance. Epilepsy and intellectual disability were features in common. Mild microcephaly was present at birth but their final head circumferences were normal.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Our report provides independent confirmation of the role of TRMT<\/jats:styled-content>10A<\/jats:italic> mutations in this syndrome and expands its phenotypic description. TRMT<\/jats:styled-content>10A<\/jats:italic> sequencing should be considered in children or adults with young\u2010onset diabetes who have a history of intellectual disability, microcephaly and epilepsy. This report also shows the advantages of using a targeted panel to identify previously unsuspected monogenic diabetes among young\u2010onset non\u2010insulin\u2010dependent diabetes in the absence of obesity and autoimmunity.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dme.13024","type":"journal-article","created":{"date-parts":[[2015,11,3]],"date-time":"2015-11-03T12:27:14Z","timestamp":1446553634000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["tRNA<\/scp> methyltransferase homologue gene TRMT<\/scp>10A<\/i> mutation in young adult\u2010onset diabetes with intellectual disability, microcephaly and epilepsy"],"prefix":"10.1111","volume":"33","author":[{"given":"T. W.","family":"Yew","sequence":"first","affiliation":[{"name":"Division of Cardiovascular and Diabetes Medicine Medical Research Institute Ninewells Hospital and Medical School Dundee UK"},{"name":"Department of Medicine National University Health System Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"McCreight","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular and Diabetes Medicine Medical Research Institute Ninewells Hospital and Medical School Dundee UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Colclough","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics Royal Devon & Exeter NHS Foundation Trust Exeter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Ellard","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics Royal Devon & Exeter NHS Foundation Trust Exeter UK"},{"name":"Institute of Biomedical and Clinical Science University of Exeter Medical School Exeter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. R.","family":"Pearson","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular and Diabetes Medicine Medical Research Institute Ninewells Hospital and Medical School Dundee UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,8,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003888"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102282"},{"key":"e_1_2_9_4_1","first-page":"1","article-title":"Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus","volume":"9999","author":"Zung A","year":"2015","journal-title":"Am J Med Genet A"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-013-2962-5"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.22.9.1462"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.0000071108.00234.0E"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.21.12.2191"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.1994.tb00273.x"},{"key":"e_1_2_9_10_1","first-page":"175","article-title":"Microcephaly: general considerations and aids to nosology","volume":"10","author":"Opitz JM","year":"1990","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2012-302882"},{"key":"e_1_2_9_12_1","unstructured":"Exome Aggregation Consortium (ExAC).Cambridge MA. Available athttp:\/\/exac.broadinstitute.orgLast accessed 7 April 2105."},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.5070303"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.76.050106.093909"}],"container-title":["Diabetic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fdme.13024","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dme.13024","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T03:12:10Z","timestamp":1696302730000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dme.13024"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,17]]},"references-count":13,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1111\/dme.13024"],"URL":"https:\/\/doi.org\/10.1111\/dme.13024","archive":["Portico"],"relation":{},"ISSN":["0742-3071","1464-5491"],"issn-type":[{"value":"0742-3071","type":"print"},{"value":"1464-5491","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,17]]},"assertion":[{"value":"2015-06-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-10-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-08-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}