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Copy Number Variation in Congenital Kidney Malformations

ABSTRACT:

We report a study of large rare, copy number variants (CNVs) in 192 patients with renal hypodysplasia (RHD). Congenital malformations of the kidney and urinary tract are present in 3 to 7 per 1,000 births, accounting for 16% of birth defects. These malformations account for 40-50% of pediatric and 7% of adult end-stage renal disease worldwide. Among these malformations, RHD represents a severe forms of disease with profound impact on long-term renal survival. We found that a significant fraction of RHD patients have a molecular diagnosis attributable to a genomic disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances.

PROVIDER: phs000565 | dbGaP |

SECONDARY ACCESSION(S): PRJNA182588PRJNA182587

REPOSITORIES: dbGaP

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			Action	DRS
	GapExchange_phs000565.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs000565.CongenitalKidneyMalformations.v1.p1.MULTI.pdf	Pdf
	manifest_phs000565.CongenitalKidneyMalformations.v1.p1.c1.GRU.pdf	Pdf
	datadict_v2.xsl	Other

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Copy Number Variation in Congenital Kidney Malformations

Project description:<p>We report a study of large rare, copy number variants (CNVs) in 192 patients with renal hypodysplasia (RHD). Congenital malformations of the kidney and urinary tract are present in 3 to 7 per 1,000 births, accounting for 16% of birth defects. These malformations account for 40-50% of pediatric and 7% of adult end-stage renal disease worldwide. Among these malformations, RHD represents a severe forms of disease with profound impact on long-term renal survival. We found that a significant fraction of RHD patients have a molecular diagnosis attributable to a genomic disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances.</p>

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