Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families

Sukor, Norlela, Mulatero, Paolo, Gordon, Richard D., So, Albertina, Duffy, David, Bertello, Chiara, Kelemen, Livia, Jeske, Yvette, Veglio, Franco and Stowasser, Michael (2008) Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families. Journal of Hypertension, 26 8: 1577-1582. doi:10.1097/HJH.0b013e3283028352


Author Sukor, Norlela
Mulatero, Paolo
Gordon, Richard D.
So, Albertina
Duffy, David
Bertello, Chiara
Kelemen, Livia
Jeske, Yvette
Veglio, Franco
Stowasser, Michael
Title Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families
Journal name Journal of Hypertension   Check publisher's open access policy
ISSN 0263-6352
Publication date 2008-08-01
Year available 2008
Sub-type Article (original research)
DOI 10.1097/HJH.0b013e3283028352
Volume 26
Issue 8
Start page 1577
End page 1582
Total pages 6
Place of publication London, U.K.
Publisher Lippincott Williams & Wilkins
Language eng
Subject C1
920106 Endocrine Organs and Diseases (excl. Diabetes)
1103 Clinical Sciences
110306 Endocrinology
Formatted abstract
Background: Familial hyperaldosteronism type II is a hereditary form of primary aldosteronism not attributable to the hybrid CYP11B1/CYP11B2 mutation that causes glucocorticoid remediable aldosteronism (or familial hyperaldosteronism type I). Although genetic defect(s) underlying familial hyperaldosteronism type II have not yet been elucidated, linkage to chromosome 7p22 was previously reported in two Australian families and a South American family with familial hyperaldosteronism type II.

Objective: To seek evidence of linkage to chromosome 7p22 in two Italian families with familial hyperaldosteronism type II based on markers that have already yielded evidence of linkage in one South American and two Australian familial hyperaldosteronism type II families and to assess the combined multipoint logarithm of odds score in these five families (two Australian, two Italian, and one South American).

Methods: Primary aldosteronism was diagnosed or excluded using widely accepted clinical and biochemical criteria. Genotypes of affected and unaffected Italian patients from two families were analysed using seven closely spaced microsatellite markers at 7p22, and multipoint logarithm of odds scores were calculated to assess linkage with familial hyperaldosteronism type II.

Results: All known affected individuals (four and two, respectively) from each of two Italian families shared identical haplotypes for the seven markers, consistent with linkage of the disease locus with the 7p22 region. The combined multipoint logarithm of odds score for five families showing linkage at 7p22 was highly significant at 5.22 ([theta] = 0) for markers D7S462 and D7S517.

Conclusion: Linkage in two Italian families makes this the third geographical area to show linkage of familial hyperaldosteronism type II at 7p22, emphasizing the likely importance of this locus in identifying the causative mutation.
Keyword Chromosome 7p22
Hyperaldosteronism type II
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2009 Higher Education Research Data Collection
Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
 
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Created: Fri, 20 Mar 2009, 02:00:48 EST by Denise Wilson on behalf of School of Medicine