alexa Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease.


Biochemistry & Physiology: Open Access

Author(s): Tan YC, Blumenfeld J, Michaeel A, Donahue S, Balina M,

Abstract Share this page

Abstract Autosomal-dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder characterized by abnormal proliferation of renal tubular epithelium, leading to massive kidney enlargement and progressive chronic kidney disease. ADPKD is caused by mutations in PKD1 and PKD2 genes. Herein, we describe and characterize a novel missense mutation in the PKD2 gene (c.1320G>T) in a 41-year-old White man with kidney cysts and a family history of ADPKD. This mutation abolishes a conserved acceptor splice site of intron 5, resulting in a premature termination following the addition of three aberrant amino acids (PKD2 p.L441C fsX4). We demonstrate that the aberrantly spliced transcript is found in substantial amounts in the patient's peripheral blood leukocytes (PBL), and show that this alternative splicing of exon 6 occurs, to a lesser magnitude, in other patients with ADPKD and in normal control individuals. The biological and clinical significance of this splice variant in ADPKD is currently unknown. 2010 John Wiley & Sons A/S. This article was published in Clin Genet and referenced in Biochemistry & Physiology: Open Access

Relevant Expert PPTs

Relevant Speaker PPTs

Recommended Conferences

  • 9th International Conference on Structural Biology
    September 18-20, 2017 Zurich, Switzerland

  •  2nd International Conference on Biochemistry
    Sep 21-22, 2017, Macau, Hong Kong
  • 2nd International Conference on Biochemistry
    September 28-29, 2017 Dubai, UAE

  • 3rd Annual Congress on Bioscience
    October 16-17, 2017 Dubai,UAE

  • 3rd International Conference on Transcriptomics
    October 30 - November 01, 2017 Bangkok, Thailand

  • 3rd International Conference on Genetic and Protein Engineering (10 Plenary Forums - 1 Event)
    November 08-09, 2017 Las Vegas, USA

Relevant Topics

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version