To investigate the mutation characteristics of (gap juction bata 6) gene in 318 Han Chinese pedigrees with non-syndromic hearing loss.Polymerase chain reaction was used to detect the coding region of gene in 318 Han Chinese pedigrees with non-syndromic hearing loss.Gene arrays and second generation sequencing were used to detect 118 genes which had reported to be accosiated with deafness in members of pedigree which possibly carried pathogenic gene mutation.Here,we have screened the mutations of gene in 318 Han Chinese pedigrees with non-syndromic hearing loss and found one pedigree carrying both and gene deletion.Clinical and molecular genetic evaluation revealed the variable phenotype of hearing impairments including age-at-onset,audiometric configuration and severity in these subjects.Mutational analysis of the and gene coding region showed a heterozygous 235 del C of gene and a novel 228 del G of gene. gene 228 del G variant,which occurs at a highly evolutionarily conserved nucleotide,forward the stop codon to 81 position and result in the corresponding polypeptide 181 amino acids shorter than wildtype polypeptide.In addition, gene 228 del G absent varies among 94 unrelated Chinese controls.Our finding suggest that gene 228 del G maybe a novel pathogenic mutation associated with non-syndromic hearing loss.