A screening analysis of the GJB2 c.176 del 16 mutation responsible for hereditary deafness in a Chinese family

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 GJB2 gene, does not need early intervention to prevent her from developing hearing loss and dysphonia at a later stage in life.