| Objective: To study the distribution of SLC26A4 gene mutation types in LVAS patients;To investigate the correlation among SLC26A4 gene mutation and HRCT imaging and clinical phenotype;To investigate the relationship among SLC26A4 gene mutation type,HRCT image characteristic of inner ear and auditory speech rehabilitation effect of LVAS patients after CI.According to the above studies,the correlation among different mutation genotypes,clinical phenotypes,image characteristic of inner ear in LVAS patients and the effects of auditory and speech rehabilitation in patients with CI was revealed.Methods: This study is a retrospective study,and the research objects are 190 LVAS patients who received unilateral or simultaneous implantation of bilateral CI in the Second Hospital of Lanzhou University from 2012 to 2022.Complete clinical data before CI were collected,related genetic test results were obtained,and relevant data on the evaluation of auditory and speech rehabilitation effects after CI surgery were collected.190 patients were classified according to the results of genetic testing: homozygous mutation group,complex heterozygous mutation group,monoallelic mutation group and negative group.On this basis,it was further divided according to the hot spot mutation of genotype:c.919-A>G homozygous mutation group,c.919-2A>G complex heterozygous mutation group,other complex heterozygous mutation groups and negative group;To compare the distribution of SLC26A4 gene mutation types in LVAS patients;To compare the relationship between clinical phenotype,imaging,molecular etiology and auditory speech rehabilitation of patients with CI.Statistical analysis: SPSS26.0 software.Results:Genetic test results: In this study,182 out of 190 subjects were detected with deafness-related gene mutations,and the detection rate of deafness-related gene mutations was 95.79%(182/190).The detection rate of SLC26A4 gene was 95.26%,including homozygous mutation(63 cases),complex heterozygous mutation(115 cases)and monoallelic mutation(3cases).There were 10 patients with GJB2 combined with SLC26A4 gene mutation,1 patient had only GJB2 gene mutation detected,1 patient had SLC26A4 combined with mitochondrial homogenous mutation,and 8patients had no gene mutation.A total of 59 SLC26A4 gene mutation sites were detected,and the most common were c.919-2A>G(51.66%,187/362),c.2168A>G(8.29%,30/362),and c.2027T>A(4.97%,18/362).In this study,79 genotypes of SLC26A4 gene were detected,among which the most common genotypes were c.919-2A>G/c.919-2A>G(30.39%,55/181),c.919-2A>G/c.2168A>G(6.63%,12/181)and c.919-2A>G/c.1174A>T(3.87%,7/181).Imaging results: Among 380 ears,only 5 ears had normal inner ear structure,and the inner ear deformity rate was 98.68%(375/380).The other375 ear malformations included: 342 ears with pure EVA malformation,29 ears with EVA+IP-Ⅱ malformation,2 ears with EVA+horizontal semicircular canal malformation,1 ear with EVA+vestibular and semicircular canal malformation,and 1 ear with IP-II malformation without EVA+vestibular and semicircular canal malformation.Correlation among genotype and imaging,clinical phenotype and auditory speech rehabilitation after CI: The residual hearing of non-c.919-2A>G homozygous mutation group+non-c.919-2A>G complex heterozygous mutation group was significantly different from that of c.919-2A>G homozygous mutation group(p=0.005)and c.919-2A>G complex heterozygous mutation group(p=0.037).There were no significant differences in the threshold of hearing aid and the main indexes of inner ear structure between different gene mutation groups.There was no significant difference between SLC26A4 gene mutation and subjective and objective auditory and speech rehabilitation.The correlation between imaging and clinical phenotype of patients,postoperative hearing aid threshold and auditory speech rehabilitation effect after CI: There was no correlation between inner ear structure and ABR(p=0.690).The mean hearing aid threshold was positively correlated with VA length of P?schl plane(β=0.948,p=0.041)and negatively correlated with vestibular width(β=-4.107,p=0.015).CAP score was not correlated with the size of the inner ear structure,SIR Score was negatively correlated with the width of VA midpoint on P?schl plane(r=-0.203,p=0.012).The width of VA midpoint in P?schl plane was positively correlated with the recognition rate in quiet environment(r=0.392,p=0.035).There was a negative correlation between the width of vestibular inlet and the recognition rate in noise environment(r=-0.491,p=0.009).Conclusions:1.The hotspot mutation of SLC26A4 gene in LVAS population undergoing CI surgery was c.919-2A>G,and the secondary mutation was c.2168A>G;The most common genotype was c.919-2A>G/c.919-2A>G.SLC26A4 gene mutation is the most important molecular cause of EVA and EVA combined with IP-Ⅱ malformation.2.Patients with the c.919-2A>G homozygous mutation and patients with c.919-2A>G heterozygous mutation of SLC26A4 gene had relatively better-preserved residual hearing than the other M2 mutation group.3.The speech function of LVAS patients receiving CI was closely related to the width of VA midpoint in P?schl plane and the width of vestibular canal in axial position.The mean hearing threshold was positively correlated with VA length of P?schl plane and negatively correlated with vestibular width.SIR Score was negatively correlated with the width of VA midpoint in P?schl plane.The width of VA point in P?schl plane is positively correlated with the rate of speech recognition of short sentences in quiet environment.There is a negative correlation between the width of vestibular inlet and the recognition rate of short sentences in noisy environment.The imaging features of VA in P?schl plane showed higher prediction accuracy of hearing loss than traditional axial plane.4.Full-length detection of SLC26A4 gene mutation and CT imaging(P?schl plane)are helpful for further research on the etiology of EVA and have certain guiding value for auditory compensation and intervention decision-making and prediction of rehabilitation effect. |
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