A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)

B. Veldhuisen, J. J. Saris, S. De Haij, T. Hayashi, David M. Reynolds, T. Mochizuki, R. Elles, R. Fossdal, N. Bogdanova, M. A. Van Dijk, E. Coto, D. Ravine, S. Nørby, C. Verellen-Dumoulin, M. H. Breuning, S. Somlo, D. J M Peters

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Abstract

Recently the second gene for autosomal dominant polycystic kidney disease (ADPKD), located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes an integral membrane protein, polycystin-2, that shows amino acid similarity to the PKD1 gene product and to the family of voltage-activated calcium (and sodium) channels. We have systematically screened the gene for mutations by single-strand conformation-polymorphism analysis in 35 families with the second type of ADPKD and have identified 20 mutations. So far, most mutations found seem to be unique and occur throughout the gene, without any evidence of clustering. In addition to small deletions, insertions, and substitutions leading to premature translation stops, one amino acid substitution and five possible splice-site mutations have been found. These findings suggest that the first step toward cyst formation in PKD2 patients is the loss of one functional copy of polycystin- 2.

Original languageEnglish (US)
Pages (from-to)547-555
Number of pages9
JournalAmerican Journal of Human Genetics
Volume61
Issue number3
StatePublished - Sep 1997

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Autosomal Dominant Polycystic Kidney
Mutation
Genes
Sodium Channels
Amino Acid Substitution
Calcium Channels
Cluster Analysis
Cysts
Membrane Proteins
Chromosomes
Amino Acids

ASJC Scopus subject areas

  • Genetics

Cite this

Veldhuisen, B., Saris, J. J., De Haij, S., Hayashi, T., Reynolds, D. M., Mochizuki, T., ... Peters, D. J. M. (1997). A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). American Journal of Human Genetics, 61(3), 547-555.

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). / Veldhuisen, B.; Saris, J. J.; De Haij, S.; Hayashi, T.; Reynolds, David M.; Mochizuki, T.; Elles, R.; Fossdal, R.; Bogdanova, N.; Van Dijk, M. A.; Coto, E.; Ravine, D.; Nørby, S.; Verellen-Dumoulin, C.; Breuning, M. H.; Somlo, S.; Peters, D. J M.

In: American Journal of Human Genetics, Vol. 61, No. 3, 09.1997, p. 547-555.

Research output: Contribution to journalArticle

Veldhuisen, B, Saris, JJ, De Haij, S, Hayashi, T, Reynolds, DM, Mochizuki, T, Elles, R, Fossdal, R, Bogdanova, N, Van Dijk, MA, Coto, E, Ravine, D, Nørby, S, Verellen-Dumoulin, C, Breuning, MH, Somlo, S & Peters, DJM 1997, 'A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)', American Journal of Human Genetics, vol. 61, no. 3, pp. 547-555.
Veldhuisen, B. ; Saris, J. J. ; De Haij, S. ; Hayashi, T. ; Reynolds, David M. ; Mochizuki, T. ; Elles, R. ; Fossdal, R. ; Bogdanova, N. ; Van Dijk, M. A. ; Coto, E. ; Ravine, D. ; Nørby, S. ; Verellen-Dumoulin, C. ; Breuning, M. H. ; Somlo, S. ; Peters, D. J M. / A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). In: American Journal of Human Genetics. 1997 ; Vol. 61, No. 3. pp. 547-555.
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AU - Nørby, S.

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AU - Somlo, S.

AU - Peters, D. J M

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