Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).

doi:10.1038/s41436-020-0844-z

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Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2020

Wu Chen-Han Wilfred, Mann Nina, Nakayama Makiko, Connaughton Dervla M, Dai Rufeng, Kolvenbach Caroline M, Kause Franziska, Ottlewski Isabel, Wang Chunyan, Klämbt Verena, Seltzsam Steve, Lai Ethan W, Selvin Aravind, Senguttuva Prabha, Bodamer Olaf, Stein Deborah R, El Desoky Sherif, Kari Jameela A, Tasic Velibor, Bauer Stuart B, Shril Shirlee, Hildebrandt Friedhelm

Abstract excerpt

PURPOSE: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in childhood and adolescence. We aim to identify novel monogenic causes of CAKUT. METHODS: Exome sequencing was performed in 550 CAKUT-affected families. RESULTS: We discovered seven FOXC1 heterozygous likely pathogenic variants within eight CAKUT families. These variants are either never...

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Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).

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