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A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

2005-01-27Artigo científico Acesso aberto
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dc.contributor.authorCalado, Joaquim
dc.contributor.authorGaspar, Augusta
dc.contributor.authorClemente, Carla
dc.contributor.authorRueff, José
dc.contributor.authorRueff, Jose
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.pblBioMed Central (BMC)
dc.date.accessioned2017-09-25T22:01:25Z
dc.date.available2017-09-25T22:01:25Z
dc.date.issued2005-01-27
dc.description.abstractBackground: 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.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent5
dc.format.extent238861
dc.identifier.doi10.1186/1471-2350-6-5
dc.identifier.otherPURE: 407646
dc.identifier.otherPURE UUID: f054c548-e9e7-4bfc-a90b-c24f28f2b2ac
dc.identifier.otherresearchoutputwizard: 9592
dc.identifier.otherPubMed: 15673476
dc.identifier.otherWOS: 000230402300001
dc.identifier.otherScopus: 26444591591
dc.identifier.otherORCID: /0000-0002-1194-3392/work/49058524
dc.identifier.urihttp://hdl.handle.net/10362/23567
dc.language.isoeng
dc.peerreviewedyes
dc.subjectTAMM-HORSFALL PROTEIN
dc.subjectLOCALIZATION
dc.subjectUROMODULIN GENE
dc.subjectCYSTIC KIDNEY-DISEASE
dc.subjectTYPE-2
dc.subjectCLUSTER
dc.subjectMCKD
dc.subjectDOMAIN
dc.subjectNEPHRONOPHTHISIS
dc.subjectENCODES
dc.subjectCYSTIC KIDNEY-DISEASE
dc.subjectTAMM-HORSFALL PROTEIN
dc.subjectUROMODULIN GENE
dc.subjectNEPHRONOPHTHISIS
dc.subjectENCODES
dc.subjectTYPE-2
dc.subjectLOCALIZATION
dc.subjectCLUSTER
dc.subjectDOMAIN
dc.subjectMCKD
dc.titleA novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathyen
dc.typejournal article
degois.publication.firstPage5
degois.publication.issueNA
degois.publication.lastPage9
degois.publication.titleBMC Medical Genetics
degois.publication.volume6
dspace.entity.typePublication
person.familyNameRueff
person.givenNameJose
person.identifier793666
person.identifier.ciencia-id0E15-908D-EA21
person.identifier.orcid0000-0002-8456-7295
person.identifier.ridE-6426-2013
person.identifier.scopus-author-id7006536439
rcaap.rightsopenAccess
relation.isAuthorOfPublication91a3b5ac-0328-498d-8cb8-08555b202306
relation.isAuthorOfPublication.latestForDiscovery91a3b5ac-0328-498d-8cb8-08555b202306

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