BACKGROUND:SLC26A4 gene mutations related to hearing loss patients can obtain good hearing and speech rehabilitation effects after cochlear implantation (CI). OBJECTIVE:To explore the long-term rehabilitative outcomes of CI in patients with different SLC26A4 mutation groups. MATERIAL AND METHODS:Clinical data of 71 patients with SLC26A4 gene mutations who received CI in the Second Hospital of Lanzhou University from 2012 to 2015 were retrospectively reviewed. According to the genetic test results, use One-way ANOVA analysis to compare the differences in auditory results, categories of auditory performance (CAP) and speech intelligibility rating (SIR) index questionnaire scores and speech recognition rates among different groups in 4-5 years after CI. RESULT:Compared with other genotypes of SLC26A4, the patients with homozygous mutation of c.919-2A > G in SLC26A4 had better hearing aid threshold at 500 Hz and better recognition rates of Yangyang words than other monoallelic mutation groups after CI (p < .05). CONCLUSIONS AND SIGNIFICANCE:The most common hot spot mutation of SLC26A4 gene is c.919-2A > G. The patients with homozygous mutation of c.919-2A > G in SLC26A4 gene had partly better hearing and speech rehabilitation than other monoallelic mutation groups after CI.

BACKGROUND:Central lucency of the bony island of the lateral semicircular canal (LSCC) is commonly found in patients with congenital severe-to-profound sensorineural hearing loss (SNHL).OBJECTIVE:Exploring the significance of bony island lucency of LSCC in congenital severe-to-profound SNHL patients.MATERIAL AND METHODS:Retrospective measurements of the inner ear structures were made on axial temporal bone CT scans from 182 (364 ears) congenital severe-to-profound SNHL patients and 50 (100 ears) tympanic membrane perforation (TMP) patients.RESULTS:The incidence of bony island lucency of LSCC was 46.7% in the congenital severe-to-profound SNHL group and 0% in the TMP group. There was a statistically significant difference in inner ear structures among congenital severe-to-profound SNHL patients with normal inner ear structure and bony island lucency of LSCC, congenital severe-to-profound SNHL patients with normal inner ear structure and no bony island lucency of LSCC, and TMP patients. The importance of the bony island lucency of LSCC was further confirmed through multiple linear regression analysis.CONCLUSIONS AND SIGNIFICANCE:Bony island lucency may have significance in congenital severe-to-profound SNHL and may be a manifestation of largely overlooked SCC malformation or hypoplasia of the inner ear.