A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.
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.
Ariza
M
M
Laboratorio de Genétíca Molecular, Hospital Central de Asturies, Oviedo, Spain.
Alvarez
V
V
Marín
R
R
Aguado
S
S
López-Larrea
C
C
Alvarez
J
J
Menéndez
M J
MJ
Coto
E
E
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
D008565:Membrane Proteins; D011506:Proteins; D050396:TRPP Cation Channels