PT - JOURNAL ARTICLE AU - M Ariza AU - V Alvarez AU - R Marín AU - S Aguado AU - C López-Larrea AU - J Alvarez AU - M J Menéndez AU - E Coto TI - A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. AID - 10.1136/jmg.34.7.587 DP - 1997 Jul 01 TA - Journal of Medical Genetics PG - 587--589 VI - 34 IP - 7 4099 - http://jmg.bmj.com/content/34/7/587.short 4100 - http://jmg.bmj.com/content/34/7/587.full SO - J Med Genet1997 Jul 01; 34 AB - 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.