Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited disorders in humans and the majority of patients carry a variant in either PKD1 or PKD2. Genetic testing is increasingly required for diagnosis, prognosis, and treatment decision, but it is challen...

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Main Authors: Vilma Mantovani, Sofia Bin, Claudio Graziano, Irene Capelli, Raffaella Minardi, Valeria Aiello, Enrico Ambrosini, Carlotta Pia Cristalli, Alessandro Mattiaccio, Milena Pariali, Sara De Fanti, Flavio Faletra, Enrico Grosso, Rachele Cantone, Elena Mancini, Francesca Mencarelli, Andrea Pasini, Anita Wischmeijer, Nicola Sciascia, Marco Seri, Gaetano La Manna
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-05-01
Series:Frontiers in Genetics
Subjects:
polycystic kidney disease
ADPKD
PKD1
PKD2
NGS
cystogenes
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00464/full

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