Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2023 |
| Outros Autores: | , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10362/155188 |
Resumo: | Funding Information: This work was supported by grant UID/BIM/00009/2016, Portuguese Science and Technology Foundation. Publisher Copyright: © 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variantsglycosuriaproximal tubulerenalsodium glucose transporter 2GeneticsGenetics(clinical)Funding Information: This work was supported by grant UID/BIM/00009/2016, Portuguese Science and Technology Foundation. Publisher Copyright: © 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.Familial Renal Glucosuria (FRG) is a co-dominantly inherited trait characterized by orthoglycaemic glucosuria. From 2003 to 2015 we have reported several cohorts validating SLC5A2 (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-AMP 2015 criteria. Forty-six variants were evaluated, including 16 novel alleles first described in this study. All are rare, ultra-rare or absent from population databases and most are missense changes. According to the ACMG-AMP 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-EM structure of the hSGLT2–MAP17 complex in the empagliflozin-bound state improved the ACMG-AMP pathogenicity score by identifying critical/functional protein domains.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)iNOVA4Health - pólo NMSCentre for Toxicogenomics and Human Health (ToxOmics)RUNBarata, RuiFila, MarcDalla-Vale, FabienneBogarin, RobertoNunes, PaulaRamalho, JoséRueff, JoséCalado, Joaquim2023-07-12T22:20:15Z2023-112023-11-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/155188eng0009-9163PURE: 66079755https://doi.org/10.1111/cge.14395info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-18T01:43:09Zoai:run.unl.pt:10362/155188Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:55:57.856186Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants |
| title |
Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants |
| spellingShingle |
Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants Barata, Rui glycosuria proximal tubule renal sodium glucose transporter 2 Genetics Genetics(clinical) |
| title_short |
Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants |
| title_full |
Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants |
| title_fullStr |
Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants |
| title_full_unstemmed |
Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants |
| title_sort |
Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants |
| author |
Barata, Rui |
| author_facet |
Barata, Rui Fila, Marc Dalla-Vale, Fabienne Bogarin, Roberto Nunes, Paula Ramalho, José Rueff, José Calado, Joaquim |
| author_role |
author |
| author2 |
Fila, Marc Dalla-Vale, Fabienne Bogarin, Roberto Nunes, Paula Ramalho, José Rueff, José Calado, Joaquim |
| author2_role |
author author author author author author author |
| dc.contributor.none.fl_str_mv |
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) iNOVA4Health - pólo NMS Centre for Toxicogenomics and Human Health (ToxOmics) RUN |
| dc.contributor.author.fl_str_mv |
Barata, Rui Fila, Marc Dalla-Vale, Fabienne Bogarin, Roberto Nunes, Paula Ramalho, José Rueff, José Calado, Joaquim |
| dc.subject.por.fl_str_mv |
glycosuria proximal tubule renal sodium glucose transporter 2 Genetics Genetics(clinical) |
| topic |
glycosuria proximal tubule renal sodium glucose transporter 2 Genetics Genetics(clinical) |
| description |
Funding Information: This work was supported by grant UID/BIM/00009/2016, Portuguese Science and Technology Foundation. Publisher Copyright: © 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
| publishDate |
2023 |
| dc.date.none.fl_str_mv |
2023-07-12T22:20:15Z 2023-11 2023-11-01T00:00:00Z |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
| dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10362/155188 |
| url |
http://hdl.handle.net/10362/155188 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
0009-9163 PURE: 66079755 https://doi.org/10.1111/cge.14395 |
| dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799138145863729152 |