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
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 association by reporting 16 non-syndromic IRD patients from ten families with bi-allelic mutations in INPP5E. Additional two patients showed early onset IRD with limited JBTS features. Detailed phenotypic description for all probands is presented...
June 29, 2021: NPJ Genomic Medicine