Human Molecular Genetics, Vol 6, 949-952, Copyright © 1997 by Oxford University Press
S Xenophontos, R Constantinides, T Hayashi, T Mochizuki, S Somlo, A Pierides and CC Deltas
Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible
for approximately 15% of cases of polycystic kidney disease. Perhaps the
only difference from the more common ADPKD1 cases is the rate of
progression of cystic changes, and the age of onset, which is 10-15 years
later for the ADPKD2 form. In Cyprus there are at least three large
families, documented by molecular linkage analysis, that map to the PKD2
locus. For two of them the defects were recently shown to be nonsense
mutations at positions arginine 742 and glutamine 405. In this report, we
describe the mutation in the third family, CY1602. For this, the entire
coding sequence was systematically screened by single strand conformation
analysis and heteroduplex formation. A novel mutation was identified in
exon 2 where a new cytosine residue was inserted immediately after codon
231 (231insC). It causes a translation frameshift and is expected to lead
to the introduction of 37 novel amino acids before the translation reaches
a new STOP codon. It is the most amino terminal mutation reported to date,
and based on the protein's modeled structure, is predicted to be within the
first transmembrane domain. It is the fourth PKD2 mutation reported thus
far, and the first which is not a nonsense mutation.
ARTICLES
A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2)
The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Nicosia.
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