Spectrum of GJB6 variants in 318 pedigrees with non-syndromic hearing loss:one deafness pedigree carrying both GJB6 and GJB2 deletion variant

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery
B J ZhengM X Guan

Abstract

Objective:To investigate the mutation characteristics of GJB6 (gap juction bata 6) gene in 318 Han Chinese pedigrees with non-syndromic hearing loss.Method:Polymerase chain reaction was used to detect the coding region of GJB6 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 GJB6 gene mutation.Result:Here,we have screened the mutations of GJB6 gene in 318 Han Chinese pedigrees with non-syndromic hearing loss and found one pedigree carrying both GJB6 and GJB2 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 GJB2 and GJB6 gene coding region showed a heterozygous 235 del C of GJB2 gene and a novel 228 del G of GJB6 gene.Conclusion:GJB6 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,GJB6...Continue Reading

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