A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I

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dc.catalogadorpau
dc.contributor.authorCarvajal, C. A.
dc.contributor.authorStehr, C. B.
dc.contributor.authorGonzález, P. A.
dc.contributor.authorRiquelme, E. M.
dc.contributor.authorMontero, T.
dc.contributor.authorSantos, M. J.
dc.contributor.authorKalergis, Alexis M.
dc.contributor.authorFardella, C. E.
dc.date.accessioned2024-03-07T18:57:17Z
dc.date.available2024-03-07T18:57:17Z
dc.date.issued2010
dc.description.abstractFamilial hyperaldosteronism type I (FH-I) is an autosomal dominant disorder caused by an unequal cross-over of the gene encoding steroid 11β-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.To report an unprecedented case of a de novo unequal crossover mutation between CYP11B1 and CYP11B2 genes causing FH-I.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.PA was diagnosed for the index case, 1 of his daughters, his son but not for his parents or siblings. XLPCR 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.We describe an unprecedented case of unequal cross-over mutation for the chimeric CYP11B1/CYP11B2 gene causing FH-I, which may be linked to a polymorphism in the index case's father germ line.
dc.fuente.origenORCID
dc.identifier.doi10.1007/bf03347044
dc.identifier.urihttps://doi.org/10.3275/7171
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/84293
dc.identifier.wosidWOS:000290372800010
dc.information.autorucEscuela de Medicina; Kalergis Parra, Alexis Mikes; 0000-0001-7622-5263; 90610
dc.language.isoen
dc.nota.accesoContenido parcial
dc.rightsacceso restringido
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titleA de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I
dc.typeartículo
sipa.codpersvinculados90610
sipa.trazabilidadORCID;2024-01-15
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