Referenced in: none

Automatically associated channels: Kir2.3

Title: A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.

Authors: M Ariza, V Alvarez, R Marín, S Aguado, C López-Larrea, J Alvarez, M J Menéndez, E Coto

Journal, date & volume: J. Med. Genet., 1997 Jul , 34, 587-9

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/9222969

Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease. Most families show positive linkage to polymorphic markers around the PKD1 (16p13.3) or PKD2 (4q21-23) loci. The PKD1 and PKD2 genes have been cloned and mutations defined in a number of patients. Several clinical studies have described a milder phenotype for PKD2 patients. More recently, evidence for a third genetic locus has been found in one Portuguese, one French-Canadian, and one Italian family. We identified a Spanish family with negative linkage to the PKD1 and the PKD2 loci. This family showed a very mild clinical phenotype compared to the other forms of ADPKD, including the non-PKD1/non-PKD2 families previously described.