A screening analysis of the c.176 del 16 mutation responsible for hereditary deafness in a Chinese family.

OBJECTIVE

To determine whether a new-born child from a family carrying a deafness gene needs cochlear implantation to avoid dysphonia by screening and sequencing a deafness-related gene.

RESULTS

Both screening and sequencing results confirmed that the new born child had a normal gene despite the fact that she has a brother suffering from hearing loss triggered by an allelic c.176 del 16 mutation. We cloned the genes derived from their respective blood genomic DNA into GFP fused plasmids and transfected those plasmids into the 293T cell line to test for gene function. While the mutated gene ( c.176 del 16) of her deaf brother was found to be unable to form the gap junction structure between two adjacent cells, the baby girl's gene ran into no such problems.

CONCLUSION

The screening and sequencing as well as the GJB2 gene function tests invariably showed results consistent with the ABR tested hearing phenotype, which means that the child, with a normal wild type gene, does not need early intervention to prevent her from developing hearing loss and dysphonia at a later stage in life.