Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-04

AUTHORS

Heon Yung Gee, Edgar A Otto, Toby W Hurd, Shazia Ashraf, Moumita Chaki, Andrew Cluckey, Virginia Vega-Warner, Pawaree Saisawat, Katrina A Diaz, Humphrey Fang, Stefan Kohl, Susan J Allen, Rannar Airik, Weibin Zhou, Gokul Ramaswami, Sabine Janssen, Clementine Fu, Jamie L Innis, Stefanie Weber, Udo Vester, Erica E Davis, Nicholas Katsanis, Hanan M Fathy, Nikola Jeck, Gunther Klaus, Ahmet Nayir, Khawla A Rahim, Ibrahim Al Attrach, Ibrahim Al Hassoun, Savas Ozturk, Dorota Drozdz, Udo Helmchen, John F O'Toole, Massimo Attanasio, Richard A Lewis, Gudrun Nürnberg, Peter Nürnberg, Joseph Washburn, James MacDonald, Jeffrey W Innis, Shawn Levy, Friedhelm Hildebrandt

ABSTRACT

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. More... »

PAGES

880-887

References to SciGraph publications

  • 2013-08. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy in HUMAN GENETICS
  • 2003-08. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis in NATURE GENETICS
  • 2006-06. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 in NATURE GENETICS
  • 2003-10. Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome in NATURE
  • 2006-06. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome in NATURE GENETICS
  • 2002-10. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin in NATURE GENETICS
  • 2005-03. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin in NATURE GENETICS
  • 2003-08. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination in NATURE GENETICS
  • 2013-01. Familial prostate cancer and HOXB13 founder mutations: geographic and racial/ethnic variations in HUMAN GENETICS
  • 2000-05. Allegro, a new computer program for multipoint linkage analysis in NATURE GENETICS
  • 2011-11. Exome sequencing as a tool for Mendelian disease gene discovery in NATURE REVIEWS GENETICS
  • 2007-08. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis in NATURE GENETICS
  • 1996-02. Ultrasound findings in juvenile nephronophthisis in PEDIATRIC NEPHROLOGY
  • 2009-09-10. Targeted capture and massively parallel sequencing of 12 human exomes in NATURE
  • 2010-10. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy in NATURE GENETICS
  • 1982-01. The nephronophthisis complex in VIRCHOWS ARCHIV A PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY
  • 1997-10. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 in NATURE GENETICS
  • 2008-11. Accurate whole human genome sequencing using reversible terminator chemistry in NATURE
  • 2007-07. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ki.2013.450

    DOI

    http://dx.doi.org/10.1038/ki.2013.450

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1023381004

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24257694


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