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

Journal of Endocrinological Investigation
Cristian A CarvajalCarlos E Fardella

Abstract

Familial 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 t...Continue Reading

References

Sep 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·L PascoeP C White
Sep 3, 1990·FEBS Letters·T KawamotoY Shizuta
Feb 1, 1995·Endocrine Research·P C White, L Slutsker
Jan 1, 1995·Steroids·R TakedaI A Blair
Feb 15, 1995·Biochemical and Biophysical Research Communications·J R JonssonR D Gordon
Nov 1, 1995·Human Molecular Genetics·S S SommerR P Ketterling
May 1, 1996·Biochemical Society Transactions·S BullockV Davison
Dec 1, 1996·The Journal of Clinical Endocrinology and Metabolism·C E FardellaW L Miller
Aug 1, 1997·Endocrinology·C E Gomez-SanchezE P Gomez-Sanchez
Dec 16, 1998·The Journal of Clinical Endocrinology and Metabolism·A A MacConnachieN E Haites
Oct 21, 2000·Hypertension·Y TakedaH Mabuchi
Oct 16, 2001·The Journal of Clinical Endocrinology and Metabolism·C E FardellaJ Montero
Oct 17, 2002·Annals of the New York Academy of Sciences·Richard V JacksonConstantine Stratakis
May 8, 2003·European Journal of Human Genetics : EJHG·Bongani M MayosiMartin Farrall
Jun 11, 2003·Hypertension·Lorena MossoCarlos E Fardella
Jul 19, 1965·JAMA : the Journal of the American Medical Association·J W CONNR M NESBIT
Dec 12, 2003·Cardiology in Review·Graham T McMahon, Robert G Dluhy
Aug 18, 2004·The International Journal of Biochemistry & Cell Biology·Patrick J CollinsBrendan O'Connor

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Citations

Jan 15, 2013·Clinica Chimica Acta; International Journal of Clinical Chemistry·Hsien-Hsiung Lee
Jun 20, 2014·Journal of Human Hypertension·C CampinoC E Fardella
Sep 1, 2021·Hypertension Research : Official Journal of the Japanese Society of Hypertension·Xiaoning LiuJun Cai

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