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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
Kidney International, Volume 85, No. 4, Year 2014
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Description
Rare single-gene disorders cause chronic disease. However, half of the 6000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers direct opportunities for improved clinical management and potentially treatment. Rare diseases comprise the majority of chronic kidney disease (CKD) in children but are notoriously difficult to diagnose. Whole-exome resequencing facilitates identification of recessive disease genes. However, its utility is impeded by the large number of genetic variants detected. We here overcome this limitation by combining homozygosity mapping with whole-exome resequencing in 10 sib pairs with a nephronophthisis-related ciliopathy, which represents the most frequent genetic cause of CKD in the first three decades of life. In 7 of 10 sibships with a histologic or ultrasonographic diagnosis of nephronophthisis-related ciliopathy, we detect the causative gene. In six sibships, we identify mutations of known nephronophthisis-related ciliopathy genes, while in two additional sibships we found mutations in the known CKD-causing genes SLC4A1 and AGXT as phenocopies of nephronophthisis-related ciliopathy. Thus, whole-exome resequencing establishes an efficient, noninvasive approach towards early detection and causation-based diagnosis of rare kidney diseases. This approach can be extended to other rare recessive disorders, thereby providing accurate diagnosis and facilitating the study of disease mechanisms. © 2013 International Society of Nephrology.
Authors & Co-Authors
Gee, Heonyung
United States, Boston
Boston Children's Hospital
Otto, Edgar A.
United States, Ann Arbor
University of Michigan, Ann Arbor
Hurd, Toby W.
United Kingdom, Edinburgh
Mrc Human Genetics Unit
Ashraf, Shazia
United States, Boston
Boston Children's Hospital
Chaki, Moumita
United States, Ann Arbor
University of Michigan, Ann Arbor
Cluckey, Andrew
United States, Ann Arbor
University of Michigan, Ann Arbor
Vega-Warner, Virginia
United States, Ann Arbor
University of Michigan, Ann Arbor
Saisawat, Pawaree
United States, Ann Arbor
University of Michigan, Ann Arbor
Diaz, Katrina A.
United States, Ann Arbor
University of Michigan, Ann Arbor
Fang, Humphrey
United States, Boston
Boston Children's Hospital
Kohl, Stefan
United States, Boston
Boston Children's Hospital
Allen, Susan J.
United States, Ann Arbor
University of Michigan, Ann Arbor
Airik, Rannar
United States, Boston
Boston Children's Hospital
Zhou, Weibin
United States, Ann Arbor
University of Michigan, Ann Arbor
Ramaswami, Gokul
United States, Ann Arbor
University of Michigan, Ann Arbor
Janssen, Sabine
United States, Ann Arbor
University of Michigan, Ann Arbor
Fu, Clementine
United States, Ann Arbor
University of Michigan, Ann Arbor
Innis, Jamie L.
United States, Ann Arbor
University of Michigan, Ann Arbor
Weber, Stefanie
Germany, Duisburg
Universität Duisburg-essen
Vester, Udo
Germany, Duisburg
Universität Duisburg-essen
Davis, Erica E.
United States, Durham
Duke University Medical Center
Katsanis, Nicholas
United States, Durham
Duke University Medical Center
Fathy, Hanan M.
Egypt, Alexandria
Faculty of Medicine
Jeck, Nikola D.M.
Germany, Marburg
Universitätsklinikum Gießen Und Marburg, Standort Marburg
Klaus, Günter
Germany, Marburg
Universitätsklinikum Gießen Und Marburg, Standort Marburg
Nayir, Ahmet Nevzat
Turkey, Istanbul
Istanbul Üniversitesi
Rahim, Khawla A.
Saudi Arabia, Riyadh
King Fahad Medical City
Attrach, Ibrahim Al
United Arab Emirates, Al Ain
United Arab Emirates University
Hassoun, Ibrahim Al
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Ozturk, Savas
Turkey, Istanbul
Bezmiâlem Vakıf Üniversitesi
Drożdż, Dorota
Poland, Krakow
Uniwersytecki Szpital Dziecięcy w Krakowie
Helmchen, Udo M.
Germany, Hamburg
Universitätsklinikum Hamburg-eppendorf
O'toole, John F.
United States, Cleveland
Case Western Reserve University
Attanasio, Massimo
United States, Dallas
Ut Southwestern Medical School
Lewis, Richard Alan
United States, Houston
Cullen Eye Institute
Nürnberg, Gudrun
Germany, Koln
Medizinische Fakultät
Nürnberg, Peter
Germany, Koln
Medizinische Fakultät
Washburn, Joseph G.
United States, Ann Arbor
University of Michigan, Ann Arbor
MacDonald, James
United States, Ann Arbor
University of Michigan, Ann Arbor
Innis, Jeffrey W.
United States, Ann Arbor
University of Michigan, Ann Arbor
United States, Huntsville
Hudsonalpha Institute for Biotechnology
Levy, Shawn E.
United States, Chevy Chase
Howard Hughes Medical Institute
Hildebrandt, Friedhelm
United States, Boston
Boston Children's Hospital
United States, Chevy Chase
Howard Hughes Medical Institute
Statistics
Citations: 72
Authors: 42
Affiliations: 20
Identifiers
Doi:
10.1038/ki.2013.450
ISSN:
00852538
e-ISSN:
15231755
Research Areas
Genetics And Genomics
Maternal And Child Health
Noncommunicable Diseases