Sissy Bassani, Edward van Beelen, Mireille Rossel, Norine Voisin, Anna Morgan, Yoan Arribat, Nicolas Chatron, Jacqueline Chrast, Massimiliano Cocca, Benjamin Delprat, Flavio Faletra, Giuliana Giannuzzi, Nicolas Guex, Roxane Machavoine, Sylvain Pradervand, Jeroen J Smits, Jiddeke M van de Kamp, Alban Ziegler, Francesca Amati, Sandrine Marlin, Hannie Kremer, Heiko Locher, Tangui Maurice, Paolo Gasparini, Giorgia Girotto, Alexandre Reymond
Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals and one unrelated NSHHL patient with predicted-to-be deleterious missense variants in USP48. We also uncovered an eighth patient presenting unilateral cochlear nerve aplasia and a de novo splice variant in the same gene. USP48 encodes a ubiquitin carboxyl-terminal hydrolase under evolutionary constraint...
September 15, 2021: Human Molecular Genetics