@article{5d680d40e6ed4a248963946a618ab062,
title = "A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)",
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.",
author = "B. Veldhuisen and Saris, {J. J.} and {De Haij}, S. and T. Hayashi and Reynolds, {D. M.} and T. Mochizuki and R. Elles and R. Fossdal and N. Bogdanova and {Van Dijk}, {M. A.} and E. Coto and D. Ravine and S. N{\o}rby and C. Verellen-Dumoulin and Breuning, {M. H.} and S. Somlo and Peters, {D. J.M.}",
note = "Funding Information: We are grateful to the families and their physicians for their cooperation. The collaboration leading to the collection of families described here was initiated by the Concerted Action {\textquoteleft}{\textquoteleft}Towards Prevention of Renal Failure Caused by ADPKD,{\textquoteright}{\textquoteright} funded by the European Community. We wish to thank S. Forrest and M. A. Mourik for the collection of families, Dr. M. B{\"o}dvarsson for the clinical analysis of the Icelandic family, R. Plug for ALF sequencing, L. Spruit for her assistance in family analysis, and J. H. Roelfsema for his help with the figures. This work was supported by funding from Dutch Kidney Foundation grant C-93.1324, National Institute of Health grant DK48383, and American Heart Association grant 94015510.",
year = "1997",
month = sep,
doi = "10.1086/515497",
language = "English (US)",
volume = "61",
pages = "547--555",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "3",
}