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Nephrol Dial Transplant. 2011 Jan;26(1):136-43. doi: 10.1093/ndt/gfq400. Epub 2010 Jul 5.

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.

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  • 1Division of Pediatric Nephrology, University Children’s Hospital, University of Heidelberg, Heidelberg, Germany.

Abstract

BACKGROUND:

Congenital anomalies of the kidneys and urinary tract (CAKUT) are frequently associated with malformations of other organs.

METHODS:

In order to explore the role of DNA microimbalances in syndromal CAKUT, we applied genome-wide array-based comparative genomic hybridization (array-CGH) in 30 children with various CAKUT phenotypes and at least one additional extrarenal symptom.

RESULTS:

In three patients, causal imbalances were detected: In one patient with duplex kidney and vesico-ureteral reflux associated with extrarenal stigmata, a terminal 9.52 Mb gain in chromosomal band 2q37.1-q37.3 and a terminal 5.65 Mb loss in 7q36.2-q36.3 were detected, which were due to an unbalanced 2;7-translocation according to FISH analysis. A balanced 2;7-translocation was present in the unaffected mother. In another patient presenting with renal hypoplasia and proximal ureteric stenosis combined with mental retardation, macrocephaly and ear anomalies, a duplication of 2.73 Mb was detected in 1q21.1. The unaffected father had a 1.3 Mb gain in 1q21.1-q21.2 involving the distal part of the patient's gain, for which benign copy number variation was described. A third patient affected by dysplastic kidney with a strongly dilated ureter and extrarenal abnormalities exhibited a de novo loss of 13.38 Mb in 3q23-q25.1 including the AGTR1 gene. However, no AGTR1 mutations were identified in the remaining allele of this case or in 108 patients with isolated renal dysplasia/hypoplasia.

CONCLUSIONS:

In this study, 10% of patients with syndromic CAKUT were shown to carry DNA microimbalances, and four chromosomal regions presumably associated with the CAKUT phenotype were identified: 1q21.1, 2q37.1-q37.3, 3q23-q25.1 and 7q36.2-q36.3.

PMID:
20605837
DOI:
10.1093/ndt/gfq400
[PubMed - indexed for MEDLINE]
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