Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene

Miguel Viribay, Tomohito Hayashi, Dolores Tellería, Toshio Mochizuki, David M. Reynolds, Rafael Alonso, Xose M. Lens, Felipe Moreno, Peter C. Harris, Stefan Somlo, José L. San Millán

Research output: Contribution to journalArticle

33 Citations (Scopus)

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequent inherited disorders. The majority of cases are due to mutation of the PKD1 gene, on 16p13.3, while in most of the remainder the disease maps to the PKD2 locus, at chromosome 4q21-q23. Recently, the PKD2 gene has been positionally cloned and three nonsense mutations within the coding sequence of the gene identified. Here we report a systematic mutation screening of all 15 exons of the PKD2 gene in chromosome 4-linked ADPKD families, using heteroduplex and SSCP analyses. We have identified and characterized seven novel mutations, with a detection rate of approximately 90% in the population studied. All of the mutations result in the premature stop of translation: four nonsense changes and three deletions. The deletions are all frameshifting, of four T nucleotides in one case and one G nucleotide in the other two. All mutations are unique and are distributed throughout the gene without evidence of clustering. Comparison of specific mutations with the clinical profile in ADPKD2 families shows no clear correlation.

Original languageEnglish (US)
Pages (from-to)229-234
Number of pages6
JournalHuman Genetics
Volume101
Issue number2
DOIs
StatePublished - 1997

Fingerprint

Autosomal Dominant Polycystic Kidney
Mutation
Genes
Nucleotides
Heteroduplex Analysis
Single-Stranded Conformational Polymorphism
Chromosomes, Human, Pair 4
Nonsense Codon
Cluster Analysis
Exons
Chromosomes
Population

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Viribay, M., Hayashi, T., Tellería, D., Mochizuki, T., Reynolds, D. M., Alonso, R., ... San Millán, J. L. (1997). Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. Human Genetics, 101(2), 229-234. https://doi.org/10.1007/s004390050621

Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. / Viribay, Miguel; Hayashi, Tomohito; Tellería, Dolores; Mochizuki, Toshio; Reynolds, David M.; Alonso, Rafael; Lens, Xose M.; Moreno, Felipe; Harris, Peter C.; Somlo, Stefan; San Millán, José L.

In: Human Genetics, Vol. 101, No. 2, 1997, p. 229-234.

Research output: Contribution to journalArticle

Viribay, M, Hayashi, T, Tellería, D, Mochizuki, T, Reynolds, DM, Alonso, R, Lens, XM, Moreno, F, Harris, PC, Somlo, S & San Millán, JL 1997, 'Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene', Human Genetics, vol. 101, no. 2, pp. 229-234. https://doi.org/10.1007/s004390050621
Viribay, Miguel ; Hayashi, Tomohito ; Tellería, Dolores ; Mochizuki, Toshio ; Reynolds, David M. ; Alonso, Rafael ; Lens, Xose M. ; Moreno, Felipe ; Harris, Peter C. ; Somlo, Stefan ; San Millán, José L. / Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. In: Human Genetics. 1997 ; Vol. 101, No. 2. pp. 229-234.
@article{c81bb59ff8504bfd8b48b0d6b7a34ecf,
title = "Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene",
abstract = "Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequent inherited disorders. The majority of cases are due to mutation of the PKD1 gene, on 16p13.3, while in most of the remainder the disease maps to the PKD2 locus, at chromosome 4q21-q23. Recently, the PKD2 gene has been positionally cloned and three nonsense mutations within the coding sequence of the gene identified. Here we report a systematic mutation screening of all 15 exons of the PKD2 gene in chromosome 4-linked ADPKD families, using heteroduplex and SSCP analyses. We have identified and characterized seven novel mutations, with a detection rate of approximately 90{\%} in the population studied. All of the mutations result in the premature stop of translation: four nonsense changes and three deletions. The deletions are all frameshifting, of four T nucleotides in one case and one G nucleotide in the other two. All mutations are unique and are distributed throughout the gene without evidence of clustering. Comparison of specific mutations with the clinical profile in ADPKD2 families shows no clear correlation.",
author = "Miguel Viribay and Tomohito Hayashi and Dolores Teller{\'i}a and Toshio Mochizuki and Reynolds, {David M.} and Rafael Alonso and Lens, {Xose M.} and Felipe Moreno and Harris, {Peter C.} and Stefan Somlo and {San Mill{\'a}n}, {Jos{\'e} L.}",
year = "1997",
doi = "10.1007/s004390050621",
language = "English (US)",
volume = "101",
pages = "229--234",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "2",

}

TY - JOUR

T1 - Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene

AU - Viribay, Miguel

AU - Hayashi, Tomohito

AU - Tellería, Dolores

AU - Mochizuki, Toshio

AU - Reynolds, David M.

AU - Alonso, Rafael

AU - Lens, Xose M.

AU - Moreno, Felipe

AU - Harris, Peter C.

AU - Somlo, Stefan

AU - San Millán, José L.

PY - 1997

Y1 - 1997

N2 - Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequent inherited disorders. The majority of cases are due to mutation of the PKD1 gene, on 16p13.3, while in most of the remainder the disease maps to the PKD2 locus, at chromosome 4q21-q23. Recently, the PKD2 gene has been positionally cloned and three nonsense mutations within the coding sequence of the gene identified. Here we report a systematic mutation screening of all 15 exons of the PKD2 gene in chromosome 4-linked ADPKD families, using heteroduplex and SSCP analyses. We have identified and characterized seven novel mutations, with a detection rate of approximately 90% in the population studied. All of the mutations result in the premature stop of translation: four nonsense changes and three deletions. The deletions are all frameshifting, of four T nucleotides in one case and one G nucleotide in the other two. All mutations are unique and are distributed throughout the gene without evidence of clustering. Comparison of specific mutations with the clinical profile in ADPKD2 families shows no clear correlation.

AB - Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequent inherited disorders. The majority of cases are due to mutation of the PKD1 gene, on 16p13.3, while in most of the remainder the disease maps to the PKD2 locus, at chromosome 4q21-q23. Recently, the PKD2 gene has been positionally cloned and three nonsense mutations within the coding sequence of the gene identified. Here we report a systematic mutation screening of all 15 exons of the PKD2 gene in chromosome 4-linked ADPKD families, using heteroduplex and SSCP analyses. We have identified and characterized seven novel mutations, with a detection rate of approximately 90% in the population studied. All of the mutations result in the premature stop of translation: four nonsense changes and three deletions. The deletions are all frameshifting, of four T nucleotides in one case and one G nucleotide in the other two. All mutations are unique and are distributed throughout the gene without evidence of clustering. Comparison of specific mutations with the clinical profile in ADPKD2 families shows no clear correlation.

UR - http://www.scopus.com/inward/record.url?scp=0031440227&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031440227&partnerID=8YFLogxK

U2 - 10.1007/s004390050621

DO - 10.1007/s004390050621

M3 - Article

C2 - 9402976

AN - SCOPUS:0031440227

VL - 101

SP - 229

EP - 234

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 2

ER -