Fig. 1: Whole-exome and targeted sequencing yielded five different rare (MAF < 0.002) heterozygous TSHZ3 missense variants predicted to be deleterious in 12 CAKUT patients from 9 of 301 (3%) families. | European Journal of Human Genetics

Fig. 1: Whole-exome and targeted sequencing yielded five different rare (MAF < 0.002) heterozygous TSHZ3 missense variants predicted to be deleterious in 12 CAKUT patients from 9 of 301 (3%) families.

From: Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract

Fig. 1: Whole-exome and targeted sequencing yielded five different rare (MAF < 0.002) heterozygous TSHZ3 missense variants predicted to be deleterious in 12 CAKUT patients from 9 of 301 (3%) families.

A Pedigrees of the nine families and electropherograms of the TSHZ3 variants (affected base positions are indicated by arrows) in all tested family members are shown. In pedigrees, squares denote males, circles females, rhombs unknown gender, small black circles spontaneous abortions, and colored symbols affected individuals with phenotypes as indicated. Six of 12 (50%) CAKUT patients carrying TSHZ3 variants presented with genital anomalies and/or developmental delay upon reverse phenotyping. Question marks denote family members with no clinical information available or without kidney ultrasound. B Scheme showing the localization of affected amino acid residues within the TSHZ3 protein. Three of the five variants are located within an N-terminal region (amino acids 1-182 of TSHZ3) reported to mediate SOX9/MYOCD interaction [24]. + TSHZ3 wild-type sequence, n.d. individual with non-available DNA. 1according to Martin et al. [24]; 2according to InterPro (http://www.ebi.ac.uk/interpro/protein/UniProt/Q63HK5/).

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