Article Text

ANALYSIS OF CONGENITAL ANOMALIES OF THE KIDNEYS AND URINARY TRACT USING ARRAY-BASED COMPARATIVE GENOMIC HYBRIDISATION
  1. S Weber1,
  2. M Renkert1,
  3. C Landwehr2,
  4. A Hoischen2,
  5. E Wühl1,
  6. B Radlwimmer3,
  7. F Schaefer1,
  8. R G Weber2
  1. 1Department of Pediatric Nephrology, University Children’s Hopsital Heidelberg, Heidelberg, Germany,
  2. 2Department for Human Genetics, University Bonn, Bonn, Germany,
  3. 3Department for Molecular Genetics, DKFZ, Heidelberg, Germany

Abstract

Objective: Congenital anomalies of the kidneys and urinary tract (CAKUT) are frequently associated with malformations of other organ systems. In a high number of cases the aetiology of maldevelopment remains unexplained. Array-based comparative genomic hybridisation (CGH) was tested to determine the detection rate of genomic microimbalances in these patients.

Methods: We analysed DNA samples of 30 unexplained CAKUT patients affected by at least one additional relevant extrarenal symptom using the genome-wide screening technology array CGH. Subsequently, results were verified by fluorescence in situ hybridisation (FISH) analysis in both patients’ and parental samples.

Results: Two of 30 patients presented microimbalances in array CGH analysis, confirmed by FISH analysis. Patient A showed a de novo microdeletion in 3q (3q23–q24), patient B an unbalanced translocation (46,XY, der(1)t(1;16)(q44;q23.3) with partial monosomy of 1q44 and trisomy of bands 16q23.3 to 16q24.3. Clinically, patient A was affected by a multicystic-dysplastic kidney associated with mental retardation, microcephalus, growth retardation and multiple joint contractions. Patient B presented with microhaematuria, hypospadia, eye anomalies, cleft palate, auricular fistula, laryngomalacia, mental retardation and corpus callosum agenesis.

Conclusion: The identification of these microimbalances allowed the restriction of the critical interval harbouring possible causative genes. In total, the results demonstrate that array CGH is a promising approach to identify a genetic origin in a subset of patients affected by congenital complex malformations.

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