Audiological and genetic determination of hearing loss in patients with Osteogenesis Imperfecta

01 October 2008 → 30 September 2012
Regional and community funding: Special Research Fund, Research Foundation - Flanders (FWO)
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Molecular and cell biology
    • Otorhinolaryngology
    • Otorhinolaryngology
    • Speech, language and hearing sciences
    • Molecular and cell biology
    • Otorhinolaryngology
osteogenesis imperfecta genotype-fenotype correlation collagen mutation hearing impairment stapes fixation
Project description

150 patients with Osteogenesis Imperfecta (OI) and identified pathogenetic collagen mutations 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.