Copy-number variation associated with congenital anomalies of the kidney and urinary tract View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-03

AUTHORS

Georgina Caruana, Milagros N. Wong, Amanda Walker, Yves Heloury, Nathalie Webb, Lilian Johnstone, Paul A. James, Trent Burgess, John F. Bertram

ABSTRACT

BACKGROUND: The most common cause of end-stage renal disease in children can be attributed to congenital anomalies of the kidney and urinary tract (CAKUT). Despite this high incidence of disease, the genetic mutations responsible for the majority of CAKUT cases remain unknown. METHODS: To identify novel genomic regions associated with CAKUT, we screened 178 children presenting with the entire spectrum of structural anomalies associated with CAKUT for submicroscopic chromosomal imbalances (deletions or duplications) using single-nucleotide polymorphism (SNP) microarrays. RESULTS: Copy-number variation (CNV) was detected in 10.1 % (18/178) of the patients; in 6.2 % of the total cohort, novel duplications or deletions of unknown significance were identified, and the remaining 3.9 % harboured CNV of known pathogenicity. CNVs were inherited in 90 % (9/10) of the families tested. In this cohort, patients diagnosed with multicystic dysplastic kidney (30 %) and posterior urethral valves (24 %) had a higher incidence of CNV. CONCLUSIONS: The genes contained in the altered genomic regions represent novel candidates for CAKUT. This study has demonstrated that a significant proportion of patients with CAKUT harbour submicroscopic chromosomal imbalances, warranting screening in clinics for CNV. More... »

PAGES

487-495

References to SciGraph publications

  • 2011-06. HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort in PEDIATRIC NEPHROLOGY
  • 1995-04. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux in NATURE GENETICS
  • 1997-02. A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family in NATURE GENETICS
  • 2001-07. Aldose reductase expression is induced by hyperglycemia in diabetic nephropathy in KIDNEY INTERNATIONAL
  • 2013-11. High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT in PEDIATRIC NEPHROLOGY
  • 2014-06. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract in KIDNEY INTERNATIONAL
  • 2007-10. Renal abnormalities and their developmental origin in NATURE REVIEWS GENETICS
  • 2013-04. The PMP22 Gene and Its Related Diseases in MOLECULAR NEUROBIOLOGY
  • 2012-01. Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis in KIDNEY INTERNATIONAL
  • 2002-11. Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-06. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association in KIDNEY INTERNATIONAL
  • 2014-04. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans in PEDIATRIC NEPHROLOGY
  • 2014-03. AKR1B10 is induced by hyperglycaemia and lipopolysaccharide in patients with diabetic nephropathy in CELL STRESS AND CHAPERONES
  • 2007-12. Down the tube of obstructive nephropathies: The importance of tissue interactions during ureter development in KIDNEY INTERNATIONAL
  • 2011-03. Phenotypic manifestations of copy number variation in chromosome 16p13.11 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-09. Genetic and developmental basis for urinary tract obstruction in PEDIATRIC NEPHROLOGY
  • 2001-10. A forkhead-domain gene is mutated in a severe speech and language disorder in NATURE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00467-014-2962-9

    DOI

    http://dx.doi.org/10.1007/s00467-014-2962-9

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1043850582

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25270717


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