Study on the Relationship between the Pathogenic Mutations of GJB2、SLC26A4 and CT Phenotypes of Inner Ear in Patient with Sensorineural Hearing Loss
SUN Baochun
DAI Zhiyao
HUANG Shasha
HAN Bing
YUAN Yongyi
SU Yu
KANG Dongyang
DAI Pu
Abstract：Objects Study on the relationship between the pathogenic mutations of GJB2、SLC26A4 and CT pheno-types of inner ear. Explore the feasibility of using the method of gene sequence analysis to help CT examination in diagnosing of patients with inner ear malformation. Methods 2686 cases of patients were detected by GJB2 and SLC26A4 with the meth-od of DNA sequence. CT phenotypes of those patients were classified according to the method proposed by Sennaroglu. We analyzed the relationship between the pathogenic mutations of gene and the CT phenotypes. Results 1、429 cases were de-tected with pathogenic mutations of GJB2 (220 cases were homozygous, 207 cases were compound heterozygous and 2 case carried dominant mutation). 596 cases were detected with pathogenic mutations of SLC26A4 (169 cases were homozygous, 427 cases were compound heterozygous). 2、873 cases of inner ear malformations were diagnosed by CT examination(371 cas-es of Mondini malformation, 338 cases of enlarged vestibular aqueduct malformation and 164 cases of other types), normal was 1813 cases. 3、99.30%(426/429) cases carried pathogenic mutation of GJB2 were detected in the normal group and 100%(596/596)cases carried pathogenic mutation of SLC26A4 were detected in the group related to vestibular aqueduct malforma-tion. Conclusion The results suggested that pathogenic mutations of GJB2 is closely related to the CT phenotype of normal and pathogenic mutations of SLC26A4 is closely related to the CT phenotype of vestibular aqueduct malformation.
Keywords：Sensorineural Hearing LossGJB2 geneSLC26A4 geneCT Phenotype
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 30-33 )