600666 POLYCYSTIC KIDNEY DISEASE 3 (AUTOSOMAL DOMINANT); PKD3

Alternative titles; symbols

POLYCYSTIC KIDNEY DISEASE, TYPE 3
POLYCYSTIC KIDNEY DISEASE 3; PKD3
POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE III; APKD3

TABLE OF CONTENTS

TEXT

NOMENCLATURE

ANIMAL MODEL

REFERENCES

CONTRIBUTORS

CREATION DATE

EDIT HISTORY

CLINICAL SYNOPSIS

Database Links

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TEXT

In a group of Portuguese families, de Almeida et al. (1995) looked for linkage between polycystic kidney disease and chromosome 16 markers closely linked to PKD1 (173900). In those families that showed no evidence of linkage to PKD1, they used the same strategy with chromosome 4 markers known to be closely linked to the PKD2 locus (173910). In this process, they found a family showing no evidence of linkage to either the PKD1 or the PKD2 locus, presenting negative lod scores in both cases. They suggested, therefore, that a third APKD locus is responsible for the development of this disease. On the basis of linkage studies in a large Danish kindred with a form of adult PKD unlinked to chromosome 16, Norby and Schwartz (1990) had suggested that the locus is on chromosome 2. With the marker D2S44 on 2q, a maximum lod score of 2.12 was obtained at theta = 0.10. However, Peters et al. (1993) found linkage to 4q in the family of Norby and Schwartz (1990).

NOMENCLATURE

In a nosology based on anatomical features devised by Potter (1972), polycystic kidney disease was divided into 4 types (see 263200). Type III was the variety that occurs in adults (and occasionally presents symptoms in childhood) and is known as 'polycystic kidneys' (173900). PKD type III (PKD3) was her designation for the entity here called polycystic kidney disease, infantile, type I, an autosomal recessive disorder. The Potter numerology never 'caught on.'

ANIMAL MODEL

Bihoreau et al. (1997) identified a gene responsible for PKD in a rat model of autosomal dominant polycystic kidney disease. By a total genome screen in an experimental backcross population derived from affected rats and a nonaffected strain using microsatellite markers, Bihoreau et al. (1997) demonstrated a locus for PKD on rat chromosome 5 and were able to exclude the candidate regions of rat chromosomes 10 and 14, homologous to the human PKD1 and PKD2 regions, respectively. They referred to the new locus as PKDr1. Detailed linkage mapping of rat chromosome 5 placed this PKD locus about 25 cM from the proenkephalin gene (PENK; 131330), which in human is located on 8q23-q24. Thus, the third PKD locus may be on human chromosome 8. However, according to the comparative map between mouse and human, it appeared that the region near Penk contains genes located on human 6q and 9p.

REFERENCES

1. Bihoreau, M.-T.; Ceccherini, I.; Browne, J.; Kranzlin, B.; Romeo, G.; Lathrop, G. M.; James, M. R.; Gretz, N. :

Location of the first genetic locus, PKDr1, controlling autosomal dominant polycystic kidney disease in Han:SPRD cy/+ rat. Hum. Molec. Genet. 6: 609-613, 1997.
PubMed ID : 9097967

2. Daoust, M. C.; Reynolds, D. M.; Bichet, D. G.; Somlo, S. :

Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25: 733-736, 1995.
PubMed ID : 7759112

3. de Almeida, S.; de Almeida, E.; Peters, D.; Pinto, J. R.; Tavora, I.; Lavinha, J.; Breuning, M.; Prata, M. M. :

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Hum. Genet. 96: 83-88, 1995.
PubMed ID : 7607660

4. Norby, S.; Schwartz, M. :

Possible locus for polycystic kidney disease on chromosome 2. (Letter) Lancet 336: 323-324, 1990.
PubMed ID : 1974020

5. Peters, D. J. M.; Spruit, L.; Saris, J. J.; Ravine, D.; Sandkuijl, L. A.; Fossdal, R.; Boersma, J.; van Eijk, R.; Norby, S.; Constantinou-Deltas, C. D.; Pierides, A.; Brissenden, J. E.; Frants, R. R.; van Ommen, G.-J. B.; Breuning, M. H. :

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nature Genet. 5: 359-362, 1993.
PubMed ID : 8298643

6. Potter, E. L. :

Normal and Abnormal Development of the Kidney. Chicago: Year Book Med. Publ. (pub.) 1972.

CLINICAL SYNOPSIS