Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of syndromes associated with other symptoms, such as Usher syndrome type 1. In a study published in PNAS journal, researchers from the reConnect Institute, foundation hosted by the Institut Pasteur, at the Hearing Institute (Institut Pasteur/Inserm/CNRS) and the Pasteur Institute of Tunis, in collaboration with universities and centers in Algeria, Morrocco, Mauritania, and Jordan), have uncovered the genetic basis of deafness occurring before the onset of language. The authors identified more than 200 distinct mutations associated with deafness, over a third of which are new. The results were made possible by analyzing genetic data from an international cohort of 450 patients from the aforementioned countries. The reclassification of the identified mutations, particularly those in genes responsible for both Usher syndrome type 1 (multisensory impairment) and isolated forms of deafness, will contribute to improving the genetic counseling for parents and provide better care for deaf children around the world. 

Find out more