Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by monogenic mutations; however, data are lacking on their frequency. Genetic diagnosis has been hampered by genetic heterogeneity and lack of genotype-phenotype correlation. To determine the percentage of cases with CAKUT that can be explained by mutations in known CAKUT genes, we analyzed the coding exons of the 17 known dominant CAKUT-causing genes in a cohort of 749 individuals from 650 families with CAKUT. The most common phenotypes in this CAKUT cohort were vesicoureteral reflux in 288 patients, renal hypodysplasia in 120 patients, and unilateral renal agenesis in 90 patients. We identified 37 different heterozygous mutations (33 novel) in 12 of the 17 known genes in 47 patients from 41 of the 650 families (6.3%). These mutations include (number of families): BMP7 (1), CDC5L (1), CHD1L (5), EYA1 (3), GATA3 (2), HNF1B (6), PAX2 (5), RET (3), ROBO2 (4), SALL1 (9), SIX2 (1), and SIX5 (1). Furthermore, several mutations previously reported to be disease-causing are most likely benign variants. Thus, in a large cohort over 6% of families with isolated CAKUT are caused by a mutation in 12 of 17 dominant CAKUT genes. Our report represents one of the most in-depth diagnostic studies of monogenic causes of isolated CAKUT in children.Kidney International advance online publication, 15 January 2014; doi:10.1038/ki.2013.508.

Using the plasmon hybridization method, we investigate the optical properties of metallic tori of different shapes and for different polarizations. The plasmon energies are found to be strongly dependent on polarization and on the aspect ratio of the torus, which we define as the ratio of the radii of the two circles that define the structure. For incident light polarized in the plane of the torus, the optical spectrum is characterized by two features, a long wavelength highly tunable dipolar plasmon resonance, and a short wavelength mode corresponding to excitation of several higher order torus modes. For aspect ratios smaller than 0.8, we find that the energy of the tunable dipolar torus mode can be described analytically as an infinite cylinder plasmon of a wavelength equal to the length of the tube. For perpendicular polarization, the spectrum exhibits a single feature made up of several closely spaced higher order torus modes which are only weakly dependent on the aspect ratio. The calculated optical properties are found to be in excellent agreement with results from numerical finite difference time domain calculations and with results from other groups.