title: A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.
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.
authors.affiliation: Laboratorio de Genétíca Molecular, Hospital Central de Asturies, Oviedo, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Ariza
authors.forename: V
authors.initials: V
authors.lastname: Alvarez
authors.forename: R
authors.initials: R
authors.lastname: Marín
authors.forename: S
authors.initials: S
authors.lastname: Aguado
authors.forename: C
authors.initials: C
authors.lastname: López-Larrea
authors.forename: J
authors.initials: J
authors.lastname: Alvarez
authors.forename: M J
authors.initials: MJ
authors.lastname: Menéndez
authors.forename: E
authors.initials: E
authors.lastname: Coto
mesh_terms: D000328:Adult; D002885:Chromosomes, Human, Pair 16; D002894:Chromosomes, Human, Pair 4; D003001:Cloning, Molecular; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics* / Q000503:physiopathology; D012150:Polymorphism, Restriction Fragment Length; D011506:Proteins / Q000235:genetics; D050396:TRPP Cation Channels
chemical_list: D008565:Membrane Proteins; D011506:Proteins; D050396:TRPP Cation Channels