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Gene Mutations: One of the Many Roads to Deafness - new lakeforest

Gene Mutations: One of the Many Roads to Deafness - new lakeforest 2025

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The review article discusses the genetic basis of nonsyndromic deafness, focusing on four specific genes: Myosin VI, PMCA2, KCNQ4, and Connexin 26. It highlights how mutations in these genes disrupt auditory function by affecting the stability of stereocilia, calcium ion regulation, potassium ion channels, and intercellular communication in the inner ear. The article emphasizes the importance of early diagnosis and advances in treatment options like cochlear implants while acknowledging that understanding the precise mechanisms of these mutations remains a challenge.

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How many deaf genes were identified?

The common GJB2 (Connexin 26) 35delG mutation might contribute to the development of ARHI and NIHL. GJB2 is a gene encoding a gap junction protein expressed in the inner ear, and may be involved in the potassium-recycling pathway in the cochlea (reviewed in Eggermont, 2014, 2017).

How many genes cause deafness?

As of this writing, more than 70 genes have been associated with autosomal recessive nonsyndromic hearing loss. In general, autosomal recessive nonsyndromic hearing loss is prelingual and severe to profound.

What are some gene mutations that can occur?

Types of Changes in DNA Class of MutationType of MutationHuman Disease(s) Linked to This Mutation Point mutation Substitution Sickle-cell anemia Insertion One form of beta-thalassemia Deletion Cystic fibrosis Chromosomal mutation Inversion Opitz-Kaveggia syndrome5 more rows

What does the GJB2 gene do?

There are currently over 400 known syndromes that include hearing loss and affect various other systems of the body, including the kidneys, the eyes, and the heart.

What gene mutation causes deafness?

In many world populations, mutations in GJB2 account for 50% of persons with autosomal recessive nonsyndromic hearing loss. The remaining 50% of cases are attributed to mutations in numerous other genes, many of which have been found to cause deafness in only one or two families.