Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

Abstract Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (IRDs) has not been made. We validate this associati...

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Bibliographic Details
Main Authors: Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska
Format: Article
Language:English
Published: Nature Publishing Group 2021-06-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-021-00214-8

Internet

https://doi.org/10.1038/s41525-021-00214-8

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