2011/12/14 by Joseph P. Pillion, David M. Vernick, Jay R. Shapiro · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Anatomy #Audiology #Bone and Dental Protein Studies #Cardiovascular and Diving-Related Complications #Conductive hearing loss #Connective Tissue Disorder #Connective tissue #Connective tissue disorders research #Dentinogenesis imperfecta #Hearing loss #Internal medicine #Medicine #Middle ear #Osteogenesis imperfecta #Pathology #Sensorineural hearing loss #Short stature #Stapes
paper · pdf · doi:10.4061/2011/983942
openalex publication_date 2011/12/14 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/22
Osteogenesis imperfecta (OI) is the most common heritable disorder of connective tissue. It is associated with fractures following relatively minor injury, blue sclerae, dentinogenesis imperfecta, increased joint mobility, short stature, and hearing loss. Structures in the otic capsule and inner ear share in the histologic features common to other skeletal tissues. OI is due to mutations involving several genes, the most commonly involved are the COL1A1 or COL1A2 genes which are responsible for the synthesis of the proalpha-1 and proalpha-2 polypeptide chains that form the type I collagen triple helix. A genotype/phenotype relationship to hearing loss has not been established in OI. Hearing loss is commonly found in OI with prevalence rates ranging from 50 to 92% in some studies. Hearing loss in OI may be conductive, mixed, or sensorineural and is more common by the second or third decade. Treatment options such as hearing aids, stapes surgery, and cochlear implants are discussed.