A genotype-phenotype correlation for GJB2 (connexin 26) deafness. INTRODUCTION: Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available as a genetic diagnostic test. This study is the first large systematic analysis indicating that the GJB2 genotype has a major impact on the degree of hearing impairment, and identifying mild genotypes. Furthermore, this study shows that it will be possible to refine this correlation and extend it to additional genotypes. These data will be useful in evaluating habilitation options for people with GJB2 related deafness.
No special preparation is needed for Connexin 26. Inform your doctor if you are on any medications or have any underlying medical conditions or allergies before undergoing Connexin 26. Your doctor depending on your condition will give specific instructions.
|UNISEX||All age groups||Mutations of both the copies of gene are seen in positive cases|