Article
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
Journal of the American Society of Nephrology : JASN - 1 Sept 2018
van der Ven Amelie T, Connaughton Dervla M, Ityel Hadas, Mann Nina, Nakayama Makiko, Chen Jing, Vivante Asaf, Hwang Daw-Yang, Schulz Julian, Braun Daniela A, Schmidt Johanna Magdalena, Schapiro David, Schneider Ronen, Warejko Jillian K, Daga Ankana, Majmundar Amar J, Tan Weizhen, Jobst-Schwan Tilman, Hermle Tobias, Widmeier Eugen, Ashraf Shazia, Amar Ali, Hoogstraaten Charlotte A, Hugo Hannah, Kitzler Thomas M, Kause Franziska, Kolvenbach Caroline M, Dai Rufeng, Spaneas Leslie, Amann Kassaundra, Stein Deborah R, Baum Michelle A, Somers Michael J G, Rodig Nancy M, Ferguson Michael A, Traum Avram Z, Daouk Ghaleb H, Bogdanović Radovan, Stajić Natasa, Soliman Neveen A, Kari Jameela A, El Desoky Sherif, Fathy Hanan M, Milosevic Danko, Al-Saffar Muna, Awad Hazem S, Eid Loai A, Selvin Aravind, Senguttuvan Prabha, Sanna-Cherchi Simone, Rehm Heidi L, MacArthur Daniel G, Lek Monkol, Laricchia Kristen M, Wilson Michael W, Mane Shrikant M, Lifton Richard P, Lee Richard S, Bauer Stuart B, Lu Weining, Reutter Heiko M, Tasic Velibor, Shril Shirlee, Hildebrandt Friedhelm
Abstract excerpt
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of kidney disease in the first three decades of life. Previous gene panel studies showed monogenic causation in up to 12% of patients with CAKUT. METHODS: We applied whole-exome sequencing to analyze the genotypes of individuals from 232 families with CAKUT, evaluating for mutations in single genes known to cause...
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