Identification of novel genes for congenital anomalies of Kidney and urinary tract (CAKUT) by CNV analyses and development of comprehensive gene testing for CAKUT

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Copy number variation (CNV) of human genome is associated with several diseases including congenital anomalies. To identify new genes responsible for congenital anomalies of kidney and urinary tract (CAKUT), we utilized Agilent genome-wide CNV 400k array. We identified 4 CNV regions, which were not detected in healthy controls and CNV databases. We found 8 genes within or around these CNV regions. Of these genes, we identified a gene in which a CAKUT-specific heterozygous deletion resulted in deletion of 3 exons. We will analyze whether these genes are responsible for CAKUT. We developed comprehensive gene testing systems for known CAKUT genes (HNF1B, PAX2, EYA1, SIX1, SALL1) using multiplex ligation-dependent probe amplification and mRNA level analysis as well as direct sequencing of genomic DNA.