Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, Julia Calzada-Wack, Yong Li, Nurit Assia Batzir, Seha Saygılı, Vera Wimmers, Gwang-Jin Kim, Marialena Chrysanthou, Zeineb Bakey, Efrat Sofrin-Drucker, Markus Kraiger, Adrián Sanz-Moreno, Oana V Amarie, Birgit Rathkolb, Tanja Klein-Rodewald, Lillian Garrett, Sabine M Hölter, Claudia Seisenberger, Stefan Haug, Pascal Schlosser, Susan Marschall, Wolfgang Wurst, Helmut Fuchs, Valerie Gailus-Durner, Matthias Wuttke, Martin Hrabe de Angelis, Jasmina Ćomić, Özlem Akgün Doğan, Yasemin Özlük, Mehmet Taşdemir, Ayşe Ağbaş, Nur Canpolat, Naama Orenstein, Salim Çalışkan, Ruthild G Weber, Carsten Bergmann, Cecile Jeanpierre, Sophie Saunier, Tze Y Lim, Friedhelm Hildebrandt, Bader Alhaddad, Lina Basel-Salmon, Yael Borovitz, Kaman Wu, Dinu Antony, Julia Matschkal, Christian W Schaaf, Lutz Renders, Christoph Schmaderer, Manuel Rogg, Christoph Schell, Thomas Meitinger, Uwe Heemann, Anna Köttgen, Sebastian J Arnold, Fatih Ozaltin, Miriam Schmidts, Julia Hoefele
Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below age 30 years. Many monogenic forms have been discovered due to comprehensive genetic testing like exome sequencing. However, disease-causing variants in known disease-associated genes only explain a proportion of cases. Here, we aim to unravel underlying molecular mechanisms of syndromic CAKUT in three unrelated multiplex families with presumed autosomal recessive inheritance. Exome sequencing in the index individuals revealed three different rare homozygous variants in FOXD2, encoding a transcription factor not previously implicated in CAKUT in humans: a frameshift in the Arabic and a missense variant each in the Turkish and the Israeli family with segregation patterns consistent with autosomal recessive inheritance...
December 26, 2023: Kidney International