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dc.coverage.spatialNEW YORK
dc.creatorFARDELLA-BELLO, CARLOS
dc.creatorKALERGIS-PARRA, ALEXIS
dc.creatorCARVAJAL-MALDONADO, CRISTIAN
dc.creatorGONZALEZ, P
dc.creatorMONTERO-HERNANZ, TOMAS
dc.creatorRIQUELME, E.
dc.creatorSANTOS, M.
dc.creatorSTEHR, C.
dc.date.accessioned2017-04-27T18:48:58Z
dc.date.available2017-04-27T18:48:58Z
dc.date.issued2011
dc.identifier.issn0391-4097
dc.identifier.urihttp://hdl.handle.net/10533/196756
dc.description.abstractFamilial hyperaldosteronism type I (FH-I) is an autosomal dominant disorder caused by an unequal cross-over of the gene encoding steroid 11 beta-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2), giving rise to a chimeric CYP11B1/CYP11B2 gene that displays aldosterone synthase activity regulated by ACTH instead of angiotensin II. Aim: To report an unprecedented case of a de novo unequal crossover mutation between CYP11B1 and CYP11B2 genes causing FH-I. Patients and methods: The index case is a 45-yr-old Chilean male diagnosed with primary aldosteronism (PA). All family members were also studied: his biological parents, 1 brother, 6 sisters, 2 daughters, and 1 son. Plasma renin activity, serum aldosterone, and its ratio were measured in all patients. Genetic analyses were performed using long-extension PCR (XL-PCR), DNA sequencing and Southern blot methods. Results: PA was diagnosed for the index case, 1 of his daughters, his son but not for his parents or siblings. XL-PCR and Southern blotting demonstrated the presence of the chimeric CYP11B1/CYP11B2 gene solely in PA-affected subjects, suggesting a case of a de novo mutation. Sequence analysis showed the unequal cross-over CYP11B1/CYP11B2 at intron 2 (c.2600-273 CYP11B2). We also identified a polymorphism at the same intron (c.2600-145C>A CYP11B2) in the genome of the index case's father. Conclusion: We describe an unprecedented case of unequal cross-over mutation for the chimeric CYP11B1/CYP11B2 gene causing FH-1, which may be linked to a polymorphism in the index case's father germ line. (J. Endocrinol. Invest. 34: 140-144, 2011) (C)2011, Editrice Kurtis
dc.language.isoENG
dc.publisherSPRINGER
dc.relationinstname: Conicyt
dc.relationreponame: Repositorio Digital RI2.0
dc.relationinstname: Conicyt
dc.relationreponame: Repositorio Digital RI2.0
dc.titleA de novo unequal cross-over mutation between cyp11b1 and cyp11b2 genes causes familial hyperaldosteronism type i
dc.typeArticulo
dc.bibliographicCitation.stpage140
dc.bibliographicCitation.endpage144
dc.identifier.folioD08I1087
dc.country.isoUSA
dc.description.citasisi4
dc.description.conicytprogramFONDEF
dc.description.emailcfardella@med.puc.cl
dc.description.investmentarticleChilean FONDECYT [1070876, 1100356]; FONDECYT [1070352]; FONDEF [DO8i1087, P07/088-F]
dc.description.number2
dc.description.volume34
dc.identifier.isiWOS:000290372800010
dc.relation.projectidinfo:eu-repo/grantAgreement/Fondef/D08I1087
dc.relation.setinfo:eu-repo/semantics/dataset/hdl.handle.net/10533/93477
dc.rights.driverinfo:eu-repo/semantics/openAccess
dc.title.journalJOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
dc.title.journalabbreviationJ ENDOCRINOL INVESTIG
dc.type.driverinfo:eu-repo/semantics/article
dc.description.shortconicytprogramFONDEF
dc.identifier.eissn1720-8386
dc.description.agradThis work was supported by Chilean "FONDECYT 1070876, 1100356" (CAC, CEF), "FONDECYT 1070352" (AMK), FONDEF DO8i1087and "Millennium Nucleus of Immunology and Immunotherapy (P07/088-F)" grants (PAG, EMR, CEF, AMK). CAC is a fellow from Comision Nacional de Investigacion Cientifica y Tecnologica de Chile.
dc.type.openaireinfo:eu-repo/semantics/publishedVersion


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