Journal Reviews

Further understanding of GJB2 hearing loss

9 November 2021 | | Laryngology / Swallowing / Voice, Otology, Paediatric ENT | Connexin 26, GJB2, Genetic modifier, Hearing level, Hereditary hearing loss, Sibling

For many years, hearing loss has been an area which has attracted the interest of clinical and academic geneticists. Genetic testing for severe-profound hearing loss is now commonplace in many healthcare systems. Understanding the genetics of hearing loss has improved...

Vestibular functions of hereditary hearing loss patients with GJB2 mutations

1 September 2015 | | GJB2 gene, Caloric test, Cervical vestibular evoked myogenic potential

Mutations of the GJB2 gene are a common cause of deafness, being found in 15-25% of cases of congenital deafness. Over 100 mutations are now recognised and may be associated with a hearing loss ranging from mild to profound. This...