Genotype-Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome

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dc.contributor.authorMachuca, Eduardo
dc.contributor.authorBenoit, Genevieve
dc.contributor.authorNevo, Fabien
dc.contributor.authorTete, Marie Josephe
dc.contributor.authorGribouval, Olivier
dc.contributor.authorPawtowski, Audrey
dc.contributor.authorBrandstrom, Per
dc.contributor.authorLoirat, Chantal
dc.contributor.authorNiaudet, Patrick
dc.contributor.authorGubler, Marie Claire
dc.contributor.authorAntignac, Corinne
dc.date.accessioned2024-01-10T13:13:19Z
dc.date.available2024-01-10T13:13:19Z
dc.date.issued2010
dc.description.abstractMutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients, whereas mutations in NPHS2, which encodes podocin, are typically responsible for childhood-onset steroid-resistant nephrotic syndrome in European populations. Genotype phenotype correlations are not well understood in non-Finnish patients. We evaluated the clinical presentation, kidney histology, and disease progression in non-Finnish CNS cases by mutational screening in 107 families (117 cases) by sequencing the entire coding regions of NPHS1, NPHS2, PLCE1, WT1, LAMB2, PDSS2, C002, and NEPH1. We found that CNS describes a heterogeneous group of disorders in non-Finnish populations. We identified nephrin and podocin mutations in most families and only rarely found mutations in genes implicated in other hereditary forms of NS. In approximately 20% of cases, we could not identify the underlying genetic cause. Consistent with the major role of nephrin at the slit diaphragm, NPHS1 mutations associated with an earlier onset of disease and worse renal outcomes than NPHS2 mutations. Milder cases resulting from mutant NPHS1 had either two mutations in the cytoplasmic tail or two missense mutations in the extracellular domain, including at least one that preserved structure and function. In addition, we extend the spectrum of known NPHS1 mutations by describing long NPHS1 deletions. In summary, these data demonstrate that CNS is not a distinct clinical entity in non-Finnish populations but rather a clinically and genetically heterogeneous group of disorders
dc.description.funderProgramme Hospitaller de Recherche Clinique
dc.description.funderProgramme Maladies Rares INSERM/Association Francaisecontre les Myopathies
dc.description.funderAssociation pour l'Utilisation du Rein Artificiel
dc.description.funderPodoNet (Clinical, Genetic and Experimental Research into Hereditary Diseases of the Podocyte)
dc.format.extent9 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1681/ASN.2009121309
dc.identifier.eissn1533-3450
dc.identifier.issn1046-6673
dc.identifier.pubmedidMEDLINE:20507940
dc.identifier.urihttps://doi.org/10.1681/ASN.2009121309
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/78292
dc.identifier.wosidWOS:000280447100022
dc.information.autorucMedicina;Machuca E;S/I;152757
dc.issue.numero7
dc.language.isoen
dc.nota.accesoSin adjunto
dc.pagina.final1217
dc.pagina.inicio1209
dc.publisherAMER SOC NEPHROLOGY
dc.revistaJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
dc.rightsregistro bibliográfico
dc.subjectDIPHOSPHATE SYNTHASE SUBUNIT-2
dc.subjectDIFFUSE MESANGIAL SCLEROSIS
dc.subjectDISTINCT EYE ABNORMALITIES
dc.subjectAGE-OF-ONSET
dc.subjectMISSENSE MUTATIONS
dc.subjectNEPHRIN MUTATIONS
dc.subjectGENOTYPE/PHENOTYPE CORRELATIONS
dc.subjectGLOMERULAR PROTEIN
dc.subjectPIERSON-SYNDROME
dc.subjectRENAL PATHOLOGY
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleGenotype-Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome
dc.typeartículo
dc.volumen21
sipa.codpersvinculados152757
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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