{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T18:54:12Z","timestamp":1770749652712,"version":"3.50.0"},"reference-count":36,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2020,1,20]],"date-time":"2020-01-20T00:00:00Z","timestamp":1579478400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["Project POCI-01-0145-FEDER-007491"],"award-info":[{"award-number":["Project POCI-01-0145-FEDER-007491"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["Project Centro-01-0145-FEDER-000019"],"award-info":[{"award-number":["Project Centro-01-0145-FEDER-000019"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Portuguese Society of Diabetology","award":["Bolsa Nuno Castel-Branco \/SPD\/2012"],"award-info":[{"award-number":["Bolsa Nuno Castel-Branco \/SPD\/2012"]}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["Project UID\/Multi\/00709\/2013"],"award-info":[{"award-number":["Project UID\/Multi\/00709\/2013"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of the GCK (MODY 2), HNF1A (MODY 3), and HNF4A (MODY 1) genes. We undertook the first multicenter genetic study of MODY in the Portuguese population. The GCK, HNF1A, and HNF4A genes were sequenced in 46 unrelated patients that had at least two of the three classical clinical criteria for MODY (age at diagnosis, family history, and clinical presentation). The functional consequences of the mutations were predicted by bioinformatics analysis. Mutations were identified in 23 (50%) families. Twelve families had mutations in the GCK gene, eight in the HNF1A gene, and three in the HNF4A gene. These included seven novel mutations (GCK c.494T&gt;C, GCK c.563C&gt;G, HNF1A c.1623G&gt;A, HNF1A c.1729C&gt;G, HNF4A c.68delG, HNF4A c.422G&gt;C, HNF4A c.602A&gt;C). Mutation-positive patients were younger at the time of diagnosis when compared to mutation-negative patients (14.3 vs. 23.0 years, p = 0.011). This study further expands the spectrum of known mutations associated with MODY, and may contribute to a better understanding of this type of diabetes and a more personalized clinical management of affected individuals.<\/jats:p>","DOI":"10.3390\/jcm9010288","type":"journal-article","created":{"date-parts":[[2020,1,21]],"date-time":"2020-01-21T03:04:43Z","timestamp":1579575883000},"page":"288","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations"],"prefix":"10.3390","volume":"9","author":[{"given":"Maria I.","family":"Alvelos","sequence":"first","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilh\u00e3, Portugal"}]},{"given":"Catarina I.","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilh\u00e3, Portugal"}]},{"given":"Eduarda","family":"Coutinho","sequence":"additional","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilh\u00e3, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8530-3091","authenticated-orcid":false,"given":"Joana T.","family":"Almeida","sequence":"additional","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilh\u00e3, Portugal"},{"name":"C4-UBI, Cloud Computing Competence Centre, University of Beira Interior, 6200-501 Covilh\u00e3, Portugal"}]},{"given":"Margarida","family":"Bastos","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universit\u00e1rio de Coimbra, 3000-075 Coimbra, Portugal"}]},{"given":"Maria L.","family":"Sampaio","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Pedi\u00e1trica, Servi\u00e7o de Pediatria M\u00e9dica, Departamento de Pediatria, Centro Hospitalar Universit\u00e1rio de Lisboa Norte, 1649-035 Lisboa, Portugal"}]},{"given":"Miguel","family":"Melo","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universit\u00e1rio de Coimbra, 3000-075 Coimbra, Portugal"},{"name":"Faculdade de Medicina, Universidade de Coimbra, 3000-548 Coimbra, Portugal"}]},{"given":"Sofia","family":"Martins","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Pedi\u00e1trica, Servi\u00e7o de Pediatria, Hospital de Braga, 4710-243 Braga, Portugal"}]},{"given":"Isabel","family":"Dinis","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Pedi\u00e1trica, Servi\u00e7o de Pediatria Ambulat\u00f3ria, Hospital Pedi\u00e1trico de Coimbra, Centro Hospitalar e Universit\u00e1rio de Coimbra, 3000-602 Coimbra, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4138-8622","authenticated-orcid":false,"given":"Alice","family":"Mirante","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Pedi\u00e1trica, Servi\u00e7o de Pediatria Ambulat\u00f3ria, Hospital Pedi\u00e1trico de Coimbra, Centro Hospitalar e Universit\u00e1rio de Coimbra, 3000-602 Coimbra, Portugal"}]},{"given":"Leonor","family":"Gomes","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universit\u00e1rio de Coimbra, 3000-075 Coimbra, Portugal"},{"name":"Faculdade de Medicina, Universidade de Coimbra, 3000-548 Coimbra, Portugal"}]},{"given":"Joana","family":"Saraiva","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universit\u00e1rio de Coimbra, 3000-075 Coimbra, Portugal"},{"name":"Faculdade de Medicina, Universidade de Coimbra, 3000-548 Coimbra, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6128-5650","authenticated-orcid":false,"given":"Bernardo D.","family":"Pereira","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia e Diabetes, Hospital Garcia de Orta, 2805-267 Almada, Portugal"}]},{"given":"Susana","family":"Gama-de-Sousa","sequence":"additional","affiliation":[{"name":"Consulta de Pediatria\/Patologia end\u00f3crina, Centro Hospitalar do M\u00e9dio Ave, Unidade de V. N. Famalic\u00e3o, 4761-917 Vila Nova de Famalic\u00e3o, Portugal"}]},{"given":"Carolina","family":"Moreno","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universit\u00e1rio de Coimbra, 3000-075 Coimbra, Portugal"},{"name":"Faculdade de Medicina, Universidade de Coimbra, 3000-548 Coimbra, Portugal"}]},{"given":"Daniela","family":"Guelho","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universit\u00e1rio de Coimbra, 3000-075 Coimbra, Portugal"}]},{"given":"Diana","family":"Martins","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universit\u00e1rio de Coimbra, 3000-075 Coimbra, Portugal"},{"name":"Faculdade de Medicina, Universidade de Coimbra, 3000-548 Coimbra, Portugal"}]},{"given":"Carla","family":"Baptista","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universit\u00e1rio de Coimbra, 3000-075 Coimbra, Portugal"}]},{"given":"Lu\u00edsa","family":"Barros","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universit\u00e1rio de Coimbra, 3000-075 Coimbra, Portugal"}]},{"given":"Mara","family":"Ventura","sequence":"additional","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilh\u00e3, Portugal"},{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universit\u00e1rio de Coimbra, 3000-075 Coimbra, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1728-9387","authenticated-orcid":false,"given":"Maria M.","family":"Gomes","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Pedi\u00e1trica, Servi\u00e7o de Pediatria, Hospital de Braga, 4710-243 Braga, Portugal"},{"name":"School of Medicine, University of Minho, 4710-057 Braga, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9326-8900","authenticated-orcid":false,"given":"Manuel C.","family":"Lemos","sequence":"additional","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilh\u00e3, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2020,1,20]]},"reference":[{"key":"ref_1","first-page":"339","article-title":"Mild familial diabetes with dominant inheritance","volume":"43","author":"Tattersall","year":"1974","journal-title":"QJM Int. 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