A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families

• Published in: Human mutation Vol. 42; no. 10; pp. 1221 - 1228
• Main Authors: Olinger, Eric, Alawi, Intisar Al, Al Riyami, Mohammed S., Salmi, Isa Al, Molinari, Elisa, Faqeih, Eissa Ali, Al‐Hamed, Mohamed H., Barroso‐Gil, Miguel, Powell, Laura, Al‐Hussaini, Abdulrahman A., Rahim, Khawla A., Almontashiri, Naif A. M., Miles, Colin, Shril, Shirlee, Hildebrandt, Friedhelm, Consortium, Genomics England Research, Wilson, Ian J., Sayer, John A.
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.10.2021
• Subjects: Child; Exome Sequencing; Fibrosis; Gene mapping; Genetic Diseases, Inborn; Homozygote; Humans; Kinesins; Liver Cirrhosis; Nephronophthisis; next generation sequencing; NPHP3; Pathogenicity; Polycystic Kidney Diseases; RNA splicing; synonymous variant; NPHP3; nephronophthisis; synonymous variant; next generation sequencing; RNA splicing

Half of patients with a ciliopathy syndrome remain unsolved after initial analysis of whole exome sequencing (WES) data, highlighting the need for improved variant filtering and annotation. By candidate gene curation of WES data, combined with homozygosity mapping, we detected a homozygous predicted...