{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:15Z","timestamp":1772160075674,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,6,22]],"date-time":"2023-06-22T00:00:00Z","timestamp":1687392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["UID\/BIM\/00009\/2016"],"award-info":[{"award-number":["UID\/BIM\/00009\/2016"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Familial Renal Glucosuria (FRG) is a co\u2010dominantly inherited trait characterized by orthoglycaemic glucosuria. From 2003 to 2015 we have reported several cohorts validating\n                    <jats:italic>SLC5A2<\/jats:italic>\n                    (16p11.2), encoding SGLT2 (Na+\/glucose cotransporter family member 2), as the gene responsible for FRG. The aim of this work was to validate the variants identified in our extended FRG cohort of published, as well more recent unreported cases, according to the ACMG\u2010AMP 2015 criteria. Forty\u2010six variants were evaluated, including 16\n                    <jats:italic>novel<\/jats:italic>\n                    alleles first described in this study. All are rare, ultra\u2010rare or absent from population databases and most are missense changes. According to the ACMG\u2010AMP standards, only 74% of the variants were classified as P\/LP. The lack of descriptions of unrelated patients with similar variants or failing to test additional affected family members, averted a conclusion for pathogenicity in the alleles that scored VUS, highlighting the importance of both family testing and variant reporting. Finally, the cryo\u2010EM structure of the hSGLT2\u2013MAP17 complex in the empagliflozin\u2010bound state improved the ACMG\u2010AMP pathogenicity score by identifying critical\/functional protein domains.\n                  <\/jats:p>","DOI":"10.1111\/cge.14395","type":"journal-article","created":{"date-parts":[[2023,6,24]],"date-time":"2023-06-24T18:55:05Z","timestamp":1687632905000},"page":"582-586","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Performance of the\n                    <scp>ACMG\u2010AMP<\/scp>\n                    criteria in a large familial renal glucosuria cohort with identified\n                    <scp>\n                      <i>SLC5A2<\/i>\n                    <\/scp>\n                    sequence variants"],"prefix":"10.1111","volume":"104","author":[{"given":"Rui","family":"Barata","sequence":"first","affiliation":[{"name":"Department of Nephrology Centro Hospitalar Lisboa Central  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Fila","sequence":"additional","affiliation":[{"name":"IGF UMR5203 CNRS INSERM U1191  Montpellier France"},{"name":"Department of Pediatric Nephrology Centre Hospitalier Universitaire de Montpellier  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabienne","family":"Dalla\u2010Vale","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Centre Hospitalier Universitaire de Montpellier  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Bogarin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Nacional de Ninos  San Jos\u00e9 Costa Rica"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Nunes","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Centro Hospitalar Lisboa Ocidental  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Ramalho","sequence":"additional","affiliation":[{"name":"iNOVA4Health, NOVA Medical School Universidade Nova de Lisboa  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Rueff","sequence":"additional","affiliation":[{"name":"ToxOmics, NOVA Medical School Universidade Nova de Lisboa  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1194-3392","authenticated-orcid":false,"given":"Joaquim","family":"Calado","sequence":"additional","affiliation":[{"name":"Department of Nephrology Centro Hospitalar Lisboa Central  Lisbon Portugal"},{"name":"ToxOmics, NOVA Medical School Universidade Nova de Lisboa  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-1054-x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0820-5"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000092790.89332.D2"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116972"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2018.12.024"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-020-01725-9"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.14948"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2015111282"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ki.5000194"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfn386"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sft100"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000381677"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-04212-9"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22932"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-021-00858-1"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.10.013"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2010030246"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.00439.2012"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00055.2009"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14395","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T01:37:58Z","timestamp":1704937078000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14395"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,22]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1111\/cge.14395"],"URL":"https:\/\/doi.org\/10.1111\/cge.14395","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14395\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14395\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14395\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14395\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14395\/v3\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14395\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14395\/v1\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,22]]},"assertion":[{"value":"2023-04-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}