Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-06

AUTHORS

Daw-Yang Hwang, Gabriel C Dworschak, Stefan Kohl, Pawaree Saisawat, Asaf Vivante, Alina C Hilger, Heiko M Reutter, Neveen A Soliman, Radovan Bogdanovic, Elijah O Kehinde, Velibor Tasic, Friedhelm Hildebrandt

ABSTRACT

Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by monogenic mutations; however, data are lacking on their frequency. Genetic diagnosis has been hampered by genetic heterogeneity and lack of genotype-phenotype correlation. To determine the percentage of cases with CAKUT that can be explained by mutations in known CAKUT genes, we analyzed the coding exons of the 17 known dominant CAKUT-causing genes in a cohort of 749 individuals from 650 families with CAKUT. The most common phenotypes in this CAKUT cohort were vesicoureteral reflux in 288 patients, renal hypodysplasia in 120 patients, and unilateral renal agenesis in 90 patients. We identified 37 different heterozygous mutations (33 novel) in 12 of the 17 known genes in 47 patients from 41 of the 650 families (6.3%). These mutations include (number of families): BMP7 (1), CDC5L (1), CHD1L (5), EYA1 (3), GATA3 (2), HNF1B (6), PAX2 (5), RET (3), ROBO2 (4), SALL1 (9), SIX2 (1), and SIX5 (1). Furthermore, several mutations previously reported to be disease-causing are most likely benign variants. Thus, in a large cohort over 6% of families with isolated CAKUT are caused by a mutation in 12 of 17 dominant CAKUT genes. Our report represents one of the most in-depth diagnostic studies of monogenic causes of isolated CAKUT in children. More... »

PAGES

1429-1433

References to SciGraph publications

  • 1998-01. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome in NATURE GENETICS
  • 2002-03. Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT in KIDNEY INTERNATIONAL
  • 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
  • 2013-11. High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT in PEDIATRIC NEPHROLOGY
  • 2000-11. PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-03. Genetics of congenital anomalies of the kidney and urinary tract in PEDIATRIC NEPHROLOGY
  • 2007-10. Renal abnormalities and their developmental origin in NATURE REVIEWS GENETICS
  • 2000-07. GATA3 haplo-insufficiency causes human HDR syndrome in NATURE
  • 1997-12. Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY in NATURE GENETICS
  • 2014-06. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association in KIDNEY INTERNATIONAL
  • 2007-08-23. Genetic approaches to human renal agenesis/hypoplasia and dysplasia in PEDIATRIC NEPHROLOGY
  • 2007-01. Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 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
  • 2011-06. HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort in PEDIATRIC NEPHROLOGY
  • 2009-09. Genetic and developmental basis for urinary tract obstruction in PEDIATRIC NEPHROLOGY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ki.2013.508

    DOI

    http://dx.doi.org/10.1038/ki.2013.508

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1047331625

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24429398


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