Analysis of the 35delG and 310del14 mutations of the GJB2 gene - diagnostics of hereditary deafness (DFNB1)

Analysis of 35delG and 310del14 mutations of the GJB2 gene - diagnosis of hereditary deafness (DFNB1)

Clinical significance

Hearing loss is one of the most common diseasesób of the organsów of the human senses. The problem affects about 10% of the population. The cause of a significant number of casesów of hearing loss are genetic aspects. The most important gene so far known to be responsible for the development of isolated hearing loss is the GJB2 gene, encoding the protein connexin 26, located on chromosome 13q12. Currently, 47 mutations have been identified within the GJB2 gene. Among the most common is a G deletion at position 35 (35delG). In Europe, this mutation is present in 70-85% of mutant alleles of the GJB2 gene and accounts for about 40% of all mutations detected in patients with genetically determined forms of hearing loss. The 35delG mutation, which is inherited in an autosomal recessive manner, affects both sexes, and deafness occurs only in homozygotes for the presence of the mutation, and does not occur in heterozygotes. Early diagnosis of deafness enables early braces, speech rehabilitation and other measures.

Patient preparation

Material: EDTA blood