The clinical application of gene chips combined with CT examination in the diagnosis of large vestibular aqueduct syndrome patients / 临床耳鼻咽喉头颈外科杂志

ABSTRACT

OBJECTIVE@#To explore the feasibility and superiority of the gene chip method and temporal bone CT in diagnosis of large vestibular aqueduct syndrome.@*METHOD@#One hundred and eighty-eight cases of deaf students in Guangzhou were selected,the microarray detection of the SLC26A4 gene locus was performed,and the 26 cases of students with detected SLC26A4 gene mutations received temporal bone CT imaging.@*RESULT@#Among the detected 26 cases of patients with hearing loss, IVS7-2A>G homozygous mutation was found in 7 cases, 17 cases were heterozygous mutation, 2168A>G heterozygous mutation presented in three cases, including one case of IVS7-2A>G and 2168A>G compound heterozygous mutations. Temporal bone CT findings of 25 cases among the 26 patients showed bilateral large vestibular aqueduct,among which 9 cases exhibited bilateral cochlear malformations, and 1 case was normal.@*CONCLUSION@#Among the different SLC26A4 gene mutations, IVS7-2A>G point mutation rates the highest, followed by 2168A>G. Most of the CT examination prompted the expansion of the vestibular aqueduct. Deafness gene chip hotspot detection of SLC26A4 gene mutations can diagnose such patients before CT examination,which can be used for screening people with high risk of deafness prenatal screening. The early detection and early diagnosis can guide proper precautionary measures in advance to prevent the occurrence of prelingual deafness.