Cytogenomic Aberrations in Isolated Multicystic Dysplastic Kidney in Children

BACKGROUND: Multicystic dysplastic kidney (MCDK) is a common form of congenital kidney anomaly. The cause of MCDK is unknown. We investigated whether MCDK in children is linked to cytogenomic aberrations. METHODS: We conducted Array Comparative Genomic Hybridization (aCGH) in 10 unrelated children with MCDK. The pattern of inheritance was determined by real-time PCR in patients and their biological parents. RESULTS: Pathogenic aberrations were detected in three patients: a deletion at 7p14.3 with a size of 2.07 Mb housing 12 genes, including BBS9 and BMPER; a duplication at 16p13.11p12.3 with a size of 3.28 Mb that included more than 20 genes; and monosomy X for a female patient. The deletion at 7p14.3 was inherited from patient’s father, while the duplication at 16p13.11p12.3 was derived from patient’s mother. CONCLUSIONS: Up to 30% of patients with MCDK possess cytogenomic aberrations. BBS9 and BMPER variants have been reported to result in cystic kidney dysplasia, suggesting possible pathogenic function for the deletion at 7p14.3 in children with MCDK. The duplication at 16p13.11p12.3 was not reported previously to associate with MCDK. Both variations were inherited from parents, indicating hereditary contributions in MCDK. Thus, aCGH is an informative tool to unravel pathogenic mechanisms of MCDK.