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Retention of heterozygosity at chromosome 7p22 and 11q13 in aldosterone-producing tumours of patients with familial hyperaldosteronism not remediable by glucocorticoids

Journal of Human Hypertension volume 18, pages 829–830 (2004)Cite this article

Dear Sir,

The genetic basis of a familial form of primary aldosteronism, that is glucocorticoid-remediable aldosteronism (GRA) or familial hyperaldosteronism type I (FH-I), has been identified in an inherited chimeric gene resulting from unequal crossing-over between the 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes.1 A different form of familial aldosteronism with probable autosomal dominant inheritance, characterized by lack of aldosterone suppressibility by glucocorticoids and associated with bilateral adrenocortical hyperplasia or aldosterone-producing adenomas (APAs), has been also described (familial hyperaldosteronism type II, FH-II).2 The molecular basis of FH-II is unclear. While defects in the angiotensin II receptor type 1 gene as well as in the CYP11B2 gene were excluded,3, 4 linkage analysis in large FH-II families has recently shown a genetic association with chromosome region 7p22.5, 6 Aldosterone-producing tumours have been also reported as part of the familial MEN1 syndrome.7 We previously described8 two pairs of sisters, from different families, with nonglucocorticoid-remediable aldosteronism, in whom one sibling from each pair had bilateral adrenal hyperplasia; in the other two sibs, blood pressure and potassium normalization was observed after removal of their unilateral APAs. In all four patients, no CYP11B1/CYP11B2 chimeric gene,9 described in a single FH-II family,10 no polymorphic variants of CYP11B2 gene, and no tumoral mutations of CYP11B1 gene were detected.

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Authors and Affiliations

  1. Department of Medical and Surgical Sciences, University of Padova, Italy

    F Fallo, C Pilon & M Pistorello

  2. Department Histology, Microbiology and Medical Biotechnologies, University of Padova, Italy

    L Barzon

  3. Department of Statistical Sciences, University of Padova, Italy

    N Sonino

  4. Department of Medicine and Experimental Oncology, University of Torino, Italy

    F Veglio & P Mulatero

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  1. F Fallo
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  2. C Pilon
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  6. F Veglio
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  7. P Mulatero
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Correspondence to F Fallo.

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Fallo, F., Pilon, C., Barzon, L. et al. Retention of heterozygosity at chromosome 7p22 and 11q13 in aldosterone-producing tumours of patients with familial hyperaldosteronism not remediable by glucocorticoids. J Hum Hypertens 18, 829–830 (2004). https://doi.org/10.1038/sj.jhh.1001747

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