Project: Audiological and genetic determination of hearing loss in patients with OSteogeneis Imperfecta
01-OCT-07 – 30-SEP-10
150 patients with Osteogeneis Imperfecta (OI) and identified pathogenetic collagen mutation are submitted to extensive audiological examination in order to characterize the hearing impairment associated with OI. A genotype-fenotype correlation will be studied to establish a relationship between the molecular defect and the hearing loss. Environmental influences and contribution of identified deafness genes on the hearing impairment in OI and similarities with otosclerosis are evaluated.