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Related Concept Videos

Hearing01:31

Hearing

When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.
Auditory Perception01:17

Auditory Perception

The auditory system is essential for sound perception, utilizing various critical structures. When sound waves enter the outer ear, they travel through the ear canal and cause the eardrum to vibrate. These vibrations are then transmitted to the middle ear, where three tiny bones – the malleus, incus, and stapes – amplify the sound. This amplification is crucial, as it ensures that the sound vibrations are strong enough to be conveyed to the inner ear. These vibrations then reach the cochlea, a...
Auditory Pathway01:15

Auditory Pathway

Auditory pathways constitute the complex neural circuits responsible for transmitting and interpreting auditory information from the peripheral auditory system to the brain. Sound waves are initially captured by the outer ear, funneled through the ear canal, and reach the tympanic membrane (eardrum). These vibrations are transmitted via the middle ear's ossicles to the inner ear's cochlea.
When viewed cross-sectionally, the cochlea reveals the scala vestibuli and scala tympani flanking the...
Learning Disabilities01:25

Learning Disabilities

Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
Dyslexia
Dyslexia is a...
Anatomy of the Ear01:16

Anatomy of the Ear

Auditory sensation, commonly called hearing, involves the transformation of sonic waves into neural impulses facilitated by the structures of the auditory organ. The prominent, flesh-like structure on the side of the head, called the auricle, directs sound waves towards the auditory canal. The auricle is often mislabeled as the pinna, a term more aligned with mobile structures like a feline's external ear. The auditory canal penetrates the cranium via the external auditory meatus of the...
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Correction: Mesolella et al. Obstructive Sleep Apnea After Supracricoid Laryngeal Surgery (OPHL II): A Monocentric Prospective Pilot Study. <i>Cancers</i> 2026, <i>18</i>, 1212.

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Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
09:44

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Published on: January 25, 2016

Correlation between GJB2 mutations and audiological deficits: personal experience.

Pasqualina M Picciotti1, Roberta Pietrobono, Giovanni Neri

  • 1Ist Clinica ORL, Università Cattolica del Sacro Cuore, Policlinico A Gemelli, Rome, Italy. pmpicciotti@rm.unicatt.it

European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
|August 1, 2008
PubMed
Summary

Genetic mutations in the GJB2 gene cause most hereditary hearing loss. This study investigated connexin 26 (Cx26) deafness, finding high variability in hearing loss severity despite common mutations like c.35 delG.

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Area of Science:

  • Genetics
  • Audiology
  • Molecular Biology

Background:

  • Mutations in the GJB2 gene are the primary cause of genetic deafness worldwide.
  • Over 100 GJB2 mutations have been identified, contributing to non-syndromic hearing loss.
  • Connexin 26 (Cx26) protein, encoded by GJB2, is crucial for cochlear function.

Purpose of the Study:

  • To detail the audiological and genetic characteristics of Cx26 deafness.
  • To correlate specific GJB2 gene mutations (genotype) with hearing loss presentation (phenotype).
  • To report personal experiences with genetic hearing loss.

Main Methods:

  • Audiological evaluations were performed on 154 patients with non-syndromic hearing loss.
  • Genetic analysis identified GJB2 mutations in affected individuals.
  • Genotype-phenotype correlations were established based on audiological data and genetic findings.

Main Results:

  • 27 out of 154 patients tested positive for GJB2 mutations.
  • The c.35 delG mutation was the most prevalent, found in 66.6% of positive cases.
  • A wide spectrum of hearing loss, from mild to profound, was observed, with significant genotype-phenotype variability.

Conclusions:

  • The c.35 delG mutation is a major cause of Cx26 deafness.
  • Genetic variations in GJB2 lead to diverse degrees of sensorineural hearing loss.
  • Understanding genotype-phenotype correlations is essential for managing hereditary deafness.