See GJB2 for additional background information on connexins.
Recent research has linked variants in the Gap Junction Beta 2 (GJB2) gene to nonsyndromic prelingual sensorineural hearing loss.
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GJB2 is a gene encoding for connexin a protein found in the cochlea.
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Variants in GJB2 are being looked at to determine age of onset as well as severity of hearing loss.
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Information gained from further research in the role of GJB2 variants in hearing loss may lead to consisted newborn screening for them.
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Further testing is needed, especially in determining the role of GJB2 variants and environmental factors on a population level, however initial studies show promise when using genetic information along with newborn screening.
GJB2 |