Urinary Anomalies in 22q11.2 Deletion (DiGeorge syndrome): From Copy Number Variations to Single-Gene Determinants of Phenotype  Gentzon Hall, MD, PhD, Jonathan C. Routh, MD, MPH, Rasheed A. Gbadegesin, MBBS, MD  American Journal of Kidney Diseases  Volume 70, Issue 1, Pages 8-10 (July 2017) DOI: 10.1053/j.ajkd.2017.03.017 Copyright © 2017 National Kidney Foundation, Inc. Terms and Conditions

Figure 1 Proposed mechanism of gene-gene interactions in congenital anomalies of the kidney and urinary tract (CAKUT) and DiGeorge syndrome. Epistatic interactions between CRKL, AIFM3, and SNAP29 have been shown to recapitulate features of CAKUT. Other genes may also contribute to produce the full spectrum of anomalies characteristic of DiGeorge syndrome. Haploinsufficiency of TBX1 has been previously established as a cause of the cardiac malformation associated with the 22q11.2 microdeletion. It remains unclear if there are critical gene-gene interactions with TBX1 that may also contribute to the renal phenotypes characteristic of DiGeorge syndrome. Finally, the potential pathogenic contribution of other genes not characterized in this study to the various phenotypic anomalies associated with DiGeorge syndrome specifically and the 22q11.2 microdeletion more broadly are yet to be determined. American Journal of Kidney Diseases 2017 70, 8-10DOI: (10.1053/j.ajkd.2017.03.017) Copyright © 2017 National Kidney Foundation, Inc. Terms and Conditions