ArticleFrontiers in cell and developmental biology2026
Genomic spectrum of congenital heart disease combined with kidney and urinary tract anomalies uncovered by exome sequencing and array-CGH.
Article in Frontiers in cell and developmental biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Congenital heart disease (CHD) combined with anomalies of the kidney and urinary tract (CAKUT) belongs to severe clinical conditions that represent isolated cases or can be part of complex inherited syndromes. To date, knowledge of the genetic basis of cardio-renal birth defects is very limited. Using chromosomal microarray analysis and exome sequencing, we investigated the spectrum of copy number variations (CNVs) and point genetic variants in a pediatric cohort of 30 patients presenting with combined CHD and CAKUT. Two patients possessed a pathogenic deletion in the 22q11.2 genomic region, well-known as the DiGeorge/velocardiofacial syndrome locus. Four other patients harbored rare copy number gains, which included one of the dosage-sensitive genes:
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