A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
Autor(a) principal: | |
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Data de Publicação: | 2005 |
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/10362/23567 |
Resumo: | Background: Familial Juvenile Hyperuricemic Nephropathy is an autosomal dominant nephropathy, characterized by decreased urate excretion and progressive interstitial nephritis. Mutations in the uromodulin coding UMOD gene have been found responsible for the disease in some families. Case presentation: We here describe a novel heterozygous p. K307T mutation in an affected female with hyperuricemia, renal cysts and renal failure. The proband's only son is also affected and the mutation was found to segregate with the disease. Conclusions: This mutation is the fourth reported in exon 5. Initial studies identified a mutation clustering in exon 4 and it has been recommended that sequencing this exon alone should be the first diagnostic test in patients with chronic interstitial nephritis with gout or hyperuricemia. However, regarding the increasing number of mutations being reported in exon 5, we now suggest that sequencing exon 5 should also be performed. |
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A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic NephropathyTAMM-HORSFALL PROTEINLOCALIZATIONUROMODULIN GENECYSTIC KIDNEY-DISEASETYPE-2CLUSTERMCKDDOMAINNEPHRONOPHTHISISENCODESCYSTIC KIDNEY-DISEASETAMM-HORSFALL PROTEINUROMODULIN GENENEPHRONOPHTHISISENCODESTYPE-2LOCALIZATIONCLUSTERDOMAINMCKDBackground: Familial Juvenile Hyperuricemic Nephropathy is an autosomal dominant nephropathy, characterized by decreased urate excretion and progressive interstitial nephritis. Mutations in the uromodulin coding UMOD gene have been found responsible for the disease in some families. Case presentation: We here describe a novel heterozygous p. K307T mutation in an affected female with hyperuricemia, renal cysts and renal failure. The proband's only son is also affected and the mutation was found to segregate with the disease. Conclusions: This mutation is the fourth reported in exon 5. Initial studies identified a mutation clustering in exon 4 and it has been recommended that sequencing this exon alone should be the first diagnostic test in patients with chronic interstitial nephritis with gout or hyperuricemia. However, regarding the increasing number of mutations being reported in exon 5, we now suggest that sequencing exon 5 should also be performed.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNCalado, JoaquimGaspar, AugustaClemente, CarlaRueff, José2017-09-25T22:01:25Z2005-01-272005-01-27T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article5application/pdfhttp://hdl.handle.net/10362/23567engPURE: 407646https://doi.org/10.1186/1471-2350-6-5info: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:RCAAP2024-03-11T04:11:51Zoai:run.unl.pt:10362/23567Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:27:50.393148Repositório 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 |
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy |
title |
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy |
spellingShingle |
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy Calado, Joaquim TAMM-HORSFALL PROTEIN LOCALIZATION UROMODULIN GENE CYSTIC KIDNEY-DISEASE TYPE-2 CLUSTER MCKD DOMAIN NEPHRONOPHTHISIS ENCODES CYSTIC KIDNEY-DISEASE TAMM-HORSFALL PROTEIN UROMODULIN GENE NEPHRONOPHTHISIS ENCODES TYPE-2 LOCALIZATION CLUSTER DOMAIN MCKD |
title_short |
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy |
title_full |
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy |
title_fullStr |
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy |
title_full_unstemmed |
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy |
title_sort |
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy |
author |
Calado, Joaquim |
author_facet |
Calado, Joaquim Gaspar, Augusta Clemente, Carla Rueff, José |
author_role |
author |
author2 |
Gaspar, Augusta Clemente, Carla Rueff, José |
author2_role |
author author author |
dc.contributor.none.fl_str_mv |
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) RUN |
dc.contributor.author.fl_str_mv |
Calado, Joaquim Gaspar, Augusta Clemente, Carla Rueff, José |
dc.subject.por.fl_str_mv |
TAMM-HORSFALL PROTEIN LOCALIZATION UROMODULIN GENE CYSTIC KIDNEY-DISEASE TYPE-2 CLUSTER MCKD DOMAIN NEPHRONOPHTHISIS ENCODES CYSTIC KIDNEY-DISEASE TAMM-HORSFALL PROTEIN UROMODULIN GENE NEPHRONOPHTHISIS ENCODES TYPE-2 LOCALIZATION CLUSTER DOMAIN MCKD |
topic |
TAMM-HORSFALL PROTEIN LOCALIZATION UROMODULIN GENE CYSTIC KIDNEY-DISEASE TYPE-2 CLUSTER MCKD DOMAIN NEPHRONOPHTHISIS ENCODES CYSTIC KIDNEY-DISEASE TAMM-HORSFALL PROTEIN UROMODULIN GENE NEPHRONOPHTHISIS ENCODES TYPE-2 LOCALIZATION CLUSTER DOMAIN MCKD |
description |
Background: Familial Juvenile Hyperuricemic Nephropathy is an autosomal dominant nephropathy, characterized by decreased urate excretion and progressive interstitial nephritis. Mutations in the uromodulin coding UMOD gene have been found responsible for the disease in some families. Case presentation: We here describe a novel heterozygous p. K307T mutation in an affected female with hyperuricemia, renal cysts and renal failure. The proband's only son is also affected and the mutation was found to segregate with the disease. Conclusions: This mutation is the fourth reported in exon 5. Initial studies identified a mutation clustering in exon 4 and it has been recommended that sequencing this exon alone should be the first diagnostic test in patients with chronic interstitial nephritis with gout or hyperuricemia. However, regarding the increasing number of mutations being reported in exon 5, we now suggest that sequencing exon 5 should also be performed. |
publishDate |
2005 |
dc.date.none.fl_str_mv |
2005-01-27 2005-01-27T00:00:00Z 2017-09-25T22:01:25Z |
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/10362/23567 |
url |
http://hdl.handle.net/10362/23567 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
PURE: 407646 https://doi.org/10.1186/1471-2350-6-5 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
5 application/pdf |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799137905149476864 |