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$100.00
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1 mg
Description
DFNB1 is an inherited condition characterized by mild to profound hearing loss that is typically present from birth. In most cases, a person must have two variants in the GJB2 gene in order to have this condition. People with just one variant in the GJB2 gene are called carriers. They’re not expected to have DFNB1 themselves, but they could pass their variant on to their future children. DFNB1 is most often caused by variants (differences) in the GJB2 gene. The GJB2 gene contains instructions for making a protein called gap junction beta 2, also known as connexin 26. This protein helps transport potassium ions and other molecules between cells. Proper movement of potassium ions in the inner ear is needed for the brain to process sound. Certain variants in the GJB2 gene impair the function of this protein.
