Article
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
European journal of human genetics : EJHG - 1 Jan 2025
D'Abrusco Fulvio, Serpieri Valentina, Taccagni Cecilia Maria, Garau Jessica, Cattaneo Luca, Boggioni Monica, Gana Simone, Battini Roberta, Bertini Enrico, Zanni Ginevra, Boltshauser Eugen, Borgatti Renato, Romaniello Romina, Signorini Sabrina, Leuzzi Vincenzo, Caputi Caterina, Manti Filippo, D'Arrigo Stefano, De Laurentiis Arianna, Graziano Claudio, Lemke Johannes R, Morelli Federica, Petković Ramadža Danijela, Sirchia Fabio, Giorgio Elisa, Valente Enza Maria
Abstract excerpt
Joubert syndrome (JS) is a genetically heterogeneous neurodevelopmental ciliopathy. Despite exome sequencing (ES), several patients remain undiagnosed. This study aims to increase the diagnostic yield by uncovering cryptic variants through targeted ES reanalysis. We first focused on 26 patients in whom ES only disclosed heterozygous pathogenic coding variants in a JS gene. We reanalyzed raw ES data searching for...
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