Genes, Vol. 14, Pages 1878: A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1

Conclusions: This is the first Spanish family with GS with a novel heterozygous missense variant in WNK1 (p.Glu630Gly) in the region containing the highly conserved acidic motif, which is showing a relatively mild phenotype, and adults diagnosed in mild adulthood. These data support the importance of missense variants in the WNK1 acidic domain in electrolyte balance/metabolism. In addition, findings in this family also suggest that indapamide retard or thiazide may be an adequate long-standing treatment for GS.
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research