Journal of Medical Genetics · 1997 · 70 citations · 17 references
MedicineGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsRenal PathophysiologyGenetic DisordersHereditary Kidney DiseasesHereditary Renal DiseasesRenal Cystic DiseasesRenal DiseaseCongenital Kidney DiseaseCongenital Kidney DisordersHereditary Cystic Kidney DiseasePolycystic Kidney Disease Genetics
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.
17