Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Janine Reurink,Nicole Weisschuh,Alejandro Garanto,Adrian Dockery,L Ingeborgh van den Born,Isabelle Fajardy,Lonneke Haer-Wigman,Susanne Kohl,Bernd Wissinger,G Jane Farrar,Tamar Ben-Yosef,Fatma Kivrak Pfiffner,Wolfgang Berger,Marianna E Weener,Lubica Dudakova,Petra Liskova,Dror Sharon,Manar Salameh, Ashley Offenheim,Elise Heon,Giorgia Girotto, Paolo Gasparini,Anna Morgan,Arthur A Bergen,Jacoline B Ten Brink,Caroline C W Klaver,Lisbeth Tranebjærg,Nanna D Rendtorff,Sascha Vermeer,Jeroen J Smits,Ronald J E Pennings,Marco Aben,Jaap Oostrik,Galuh D N Astuti,Jordi Corominas Galbany,Hester Y Kroes,Milan Phan,Wendy A G van Zelst-Stams,Alberta A H J Thiadens,Joke B G M Verheij,Mary J van Schooneveld,Suzanne E de Bruijn,Catherina H Z Li,Carel B Hoyng,Christian Gilissen,Lisenka E L M Vissers,Frans P M Cremers,Hannie Kremer,Erwin van Wijk,Susanne Roosing

Human Genetics and Genomics Advances（2023）

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摘要

A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-associated disease and no or mono-allelic USH2A variants using whole genome sequencing (WGS) followed by an improved pipeline for variant interpretation to provide a conclusive diagnosis.

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关键词

USH2A,Usher syndrome,retinitis pigmentosa,usherin,whole genome sequencing,minigene splice assay,splicing,antisense oligonucleotides,photoreceptor precursor cells,pseudoexon

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