Further evidence of linkage at 7p22 with familial hyperaldosteronism type II

So, Albertina, Stowasser, Michael, Gordon, Richard, Duffy, David and Jeske, Yvette (2005). Further evidence of linkage at 7p22 with familial hyperaldosteronism type II. In: NPG, American Journal of Hypertension. 20th Annual Scientific Meeting of the American Society of Hypertension, San Francisco, USA, (A240-A240). 14-18 May 2005. doi:10.1016/j.amjhyper.2005.03.659


Author So, Albertina
Stowasser, Michael
Gordon, Richard
Duffy, David
Jeske, Yvette
Title of paper Further evidence of linkage at 7p22 with familial hyperaldosteronism type II
Conference name 20th Annual Scientific Meeting of the American Society of Hypertension
Conference location San Francisco, USA
Conference dates 14-18 May 2005
Proceedings title American Journal of Hypertension   Check publisher's open access policy
Journal name American Journal of Hypertension   Check publisher's open access policy
Place of Publication Elsevier Inc
Publisher New York, USA
Publication Year 2005
DOI 10.1016/j.amjhyper.2005.03.659
ISSN 0895-7061
1879-1905
Editor NPG
Volume 18
Issue 5
Start page A240
End page A240
Total pages 1
Language eng
Abstract/Summary Primary aldosteronism (PAL) is caused by the autonomous over-production of aldosterone. Once thought rare, it is now reported to be responsible for 5–10% of hypertension. Familial hyperaldosteronism type II (FH-II), unlike familial hyperaldosteronism type I, is not glucocorticoid-remediable and not associated with the hybrid CYP11B1/CYP11B2 gene mutation. At least five times more common than FH-I, FH-II is clinically, biochemically and morphologically indistinguishable from apparently sporadic PAL, suggesting that its incidence maybe even higher. Studies performed in collaboration with C Stratakis (NIH, Bethesda) on our largest Australian FH-II family (eight affected members) demonstrated linkage at chromosome 7p22. Similar linkage at this region was also found in a South American FH-II family (DNA provided by MI New, Presbyterian Hospital, New York). Mutations in the exons and intron/exon boundaries of the PRKARIB gene (which resides at 7p22 and is closely related to PRKARIA gene mutated in Carney complex) have been excluded in our largest Australian FH-II family. Using more finely spaced markers, we have confirmed linkage at 7p22 in these 2 families, and identified a second Australian family with evidence of linkage at this locus. The combined multipoint LOD score for these 3 families is 4.87 (θ=0) with markers D7S462 and D7S2424, which exceeds the critical threshold for genome-wide significance suggested by Lander and Kruglyak (1995), providing strong support for this locus harbouring mutations responsible for FH-II. A newly identified recombination event in our largest Australian family has narrowed the region of linkage by 1.8 Mb, permitting exclusion of approximately half the genes residing in the original reported 5Mb linked locus. In addition, we have strongly excluded linkage to these key markers in two Australian families (maximum multipoint LOD scores −3.51 and −2.77), supporting the notion that FH-II may be genetically heterogeneous. In order to identify candidate genes at 7p22, more closely spaced markers will be used to refine the locus, as well as single nucleotide polymorphism analysis.
Subjects EX
321004 Endocrinology
730105 Endocrine organs and diseases (incl. diabetes)
1103 Clinical Sciences
Keyword Primary aldosteronism (PAL)
Familial hyperaldosteronism type II
7p22
Linkage
Q-Index Code EX

 
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Created: Thu, 23 Aug 2007, 20:35:30 EST