Linkage of Gordon’s syndrome to the long arm of chromosome 17 in a region recently linked to familial essential hypertension

Abstract

Gordon's syndrome (GS) is a salt-sensitive, hyperkalaemic, familial hypertension syndrome which may masquerade in milder forms as essential hypertension. The response of hyperakalaemia to dietary salt restriction and to mineralocorticoids is heterogeneous, suggesting genetic heterogeneity. In a recently published study using small pedigrees, possible linkage of GS to chromosomes 1 and 17 was described. Studying the largest pedigree so far reported with GS, and using fluorescentlabelled microsatellite markers, we sought evidence of linkage to chromosomes 1 and 17. In this family there was no segregation of GS with any of the markers for

A New Kindred With Pseudohypoaldosteronism Type II and a Novel Mutation (564D>H) in the Acidic Motif of the WNK4 Gene

“…Another explanation may be that WNK4 affects ROMK expression in an isoform-specific manner. In the rat, ROMK isoforms [1][2][3] are differentially expressed along the nephron, with ROMK1 the predominant isoform in the collecting duct. 19 It is also notable that hyperkalemia in type 2 Bartter's usually occurs with subjects with gene deletions removing isoforms 2 and 3.…”

“…1 At least 3 different genetic loci have been identified for this monogenic syndrome with a further locus likely [2][3][4][5][6] (OMIM 145260, ϩ601844, and ϩ605232). Recent collaborative work from the Lifton and Jeunemaitre laboratories has identified 2 of these loci as members of the novel family of serine-threonine kinases WNK4 and WNK1.…”

The ACE gene I/D polymorphism, but not the angiotensin II type I receptor gene A1166C polymorphism is associated with isolated systolic hypertension

“…Indeed, there is some evidence for an hypertension gene nearby. Markers in this region of chromosome 17 have been linked to essential hypertension 8 and Gordon's syndrome, 9 a form of hypertension characterised by salt-sensitivity and hyperkalaemia. Other studies have examined a marker in the human growth hormone gene on chromosome 17 and found evidence of linkage with DBP in males.…”

Genetics of hypertension: from experimental models to clinical applications

“…Analysis of PHA II families showing autosomal dominant transmission revealed linkage of PHA II to chromosomes 1q31-q42 and 17p11-q21. 114,115 This is a form of hypertension which most closely mimics essential hypertension and the mild phenotype may leave a large proportion of patients with Gordon's syndrome undiagnosed.…”