The majority of nonsyndromic hearing loss is passed down in an autosomal manner. Mutations in the GJB2 gene cause approximately half of all serious autosomal recessive nonsyndromic hearing loss; these cases are referred to as DFNB1.
- GJB2-related hearing loss is one of the most common genetic factors of hearing loss, and it is classified as a recessive genetic disorder because the mutations only end up causing deafness in people who receive two copies of the mutated gene, one from each parent.
- If only one of the hereditary copies from the parents is damaged, a dominant mutation that causes hearing loss. Recessive mutations cause hearing loss only if both copies of the gene are damaged, i.e. if both parents carry the gene mutation.
- Genetic changes in the SLC26A4 gene have been linked to the large vestibular aqueduct disorder (LVAS), whilst mutations in the GJB3 gene have been linked to nonsyndromic deafness. Nevertheless, the clinical phenotypes of such mutations vary and are not completely understood.
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