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Which human gene is associated with the most common inherited form of hearing loss?
Quick Answer
GJB2 is one of the most commonly implicated genes in inherited hearing loss. Mutations in it are a major cause of nonsyndromic deafness worldwide.
The Full Story
The GJB2 gene encodes connexin 26, a protein important for cell communication in the inner ear. Mutations in GJB2 are among the most common causes of inherited, nonsyndromic hearing loss. In many populations, one well-known mutation is 35delG, though the common variants differ by region and ancestry. Because hearing loss can have many genetic causes, GJB2 is one of the first genes often tested in diagnosis.
Key Facts
1.GJB2 encodes connexin 26
2.It is a common cause of inherited hearing loss
3.35delG is a well-known variant in some populations
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"A tiny gene in the inner ear can make a huge difference in hearing."
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