A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct

2017 ◽  
Vol 95 ◽  
pp. 104-108 ◽  
Author(s):  
Xiaoguang He ◽  
Qi Peng ◽  
Siping Li ◽  
Pengyuan Zhu ◽  
Chunqiu Wu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Missense Mutation ◽  
Nonsyndromic Hearing Loss ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Slc26a4 Gene

Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct

2012 ◽  
Vol 126 (4) ◽  
pp. 349-355 ◽  
Author(s):  
R Lai ◽  
P Hu ◽  
F Zhu ◽  
G Zhu ◽  
R Vivero ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implantation ◽  
Genetic Diagnosis ◽  
Chinese Patients ◽  
Nonsyndromic Hearing Loss ◽  
Novel Mutations ◽  
Enlarged Vestibular Aqueduct ◽  
Asian Populations ◽  
Vestibular Aqueduct ◽  
Genetic Examination

AbstractObjective:To review the genotype and cochlear implantation outcome of patients with nonsyndromic hearing loss and enlarged vestibular aqueduct.Methods:Twenty-one Chinese children with nonsyndromic hearing loss and enlarged vestibular aqueduct underwent genetic examination. A DNA microarray was used to screen for the IVS7-2A>G and H723R mutations. Any DNA samples with one or none of the two mutant alleles were sequenced to detect other mutations in the SLC26A4 and FOXI1 genes.Results:Twelve SLC26A4 mutations were detected, including three novel mutations. The most common mutations detected were IVS7-2A>G and H723R. Twelve patients received cochlear implants, and subsequently demonstrated excellent speech perception.Conclusion:Three novel mutations were detected in Chinese patients with nonsyndromic hearing loss and enlarged vestibular aqueduct. The SLC26A4 mutation spectrum in the Chinese population is similar to that in other East Asian populations. Cochlear implantation is a safe and effective treatment in patients with enlarged vestibular aqueduct.

scholarly journals The Influence of Mutations in the SLC26A4 Gene on the Temporal Bone in a Population With Enlarged Vestibular Aqueduct

2007 ◽  
Vol 133 (2) ◽  
pp. 162 ◽  
Author(s):  
Colm Madden ◽  
Mark Halsted ◽  
Jareen Meinzen-Derr ◽  
Dianna Bardo ◽  
Mark Boston ◽  
...  
Keyword(s):  
Temporal Bone ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Slc26a4 Gene

scholarly journals Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss

2019 ◽  
Vol 39 (3) ◽  
Author(s):  
Lihua Wu ◽  
Yunliang Liu ◽  
Jianman Wu ◽  
Sheng Chen ◽  
Shupin Tang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Ct Scan ◽  
Inner Ear ◽  
Gene Mutations ◽  
Pathogenic Mutation ◽  
Vestibular Aqueduct ◽  
Slc26a4 Gene ◽  
Pathogenic Mutations ◽  
Inner Ear Malformation ◽  
Single Allele

Abstract To investigate the possible association of pathogenic mutations of SLC26A4 and computerized tomography (CT) phenotypes of inner ear, and explore the feasibility of using the method of gene sequence analysis. A total of 155 patients with bilateral hearing loss carrying SLC26A4 gene mutations were further subjected to high-resolution temporal bone CT and thyroid B ultrasound tests. The potential relationship between the pathogenic mutations of gene and the CT phenotypes were analyzed. As a result, 65 patients (41.9%, 65/155) carried SLC26A4 gene mutations, and 27 cases were detected with pathogenic mutations of SLC26A4 where IVS7-2A>G (55.6%, 15/27) was the most common pathogenic mutation. Amongst them, 19 patients carrying bi-allelic SLC26A4 mutations were all confirmed to have inner ear malformation by CT scan including four cases of enlarged vestibular aqueduct (EVA) and 15 cases of Mondini dysplasia (MD). However, there was only one in eight cases of single allele pathogenic mutation who was confirmed to have EVA by CT scan. Further, only one patient with EVA was confirmed to be slightly higher of total T3 than normal by thyroid ultrasound scan and thyroid hormone assays. These findings suggested that CT detection and SLC26A4 gene detection are efficient methods to diagnose EVA, which can complement each other. Also, the bi-allelic pathogenic mutations of SLC26A4 are more likely to induce inner ear malformation than single allele pathogenic mutation.

Enlarged Vestibular Aqueduct in Pediatric SNHL

2008 ◽  
Vol 139 (2_suppl) ◽  
pp. P104-P104
Author(s):  
Karuna Dewan ◽  
Judith C. Lieu
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Sensorineural Hearing Loss ◽  
Temporal Bone ◽  
Pediatric Population ◽  
Sensorineural Hearing ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Current Estimation ◽  
Temporal Bone Ct

Problem Current diagnostic criteria for enlarged vestibular aqueduct (EVA), >1.5mm at the midpoint, was determined in the pre-CT era by Valvassori. Recent research, based on 73 CTs from children with no sensorineural hearing loss (SNHL), suggests new criteria for the diagnosis of EVA—midpoint of >0.9mm or operculum >1.9mm. We evaluated the proposed new radiographic, Cincinnati criteria for the diagnosis of EVA. Methods In a retrospective cohort study, we reviewed temporal bone CT scans of 130 pediatric cochlear implant recipients to measure the vestibular aqueduct midpoint and opercular width and 5 other temporal bone dimensions. Results The Cincinnati criteria identified 44% of patients with EVA versus 16% with the Valvassori criterion (P < 0.01). Of those with EVA, 45% were unilateral and 55% were bilateral using Cincinnati criteria; 64% were unilateral and 36% bilateral using Valvassori criterion (P<0.01). Right and left side measurements of vestibular aqueduct operculum (r=0.67, P<0.01) and midpoint (r=0.58, P<0.01) correlated substantially. The Cincinnati criteria diagnosed 70 ears with EVA classified as normal using the Valvassori criterion (P<0.01). Of these 70 ears, 59 had no other medical explanation for their hearing loss. Conclusion The Cincinnati criteria identified a large percentage of pediatric cochlear implant patients with EVA who otherwise had no known etiology for their deafness. Significant correlations between right and left side measurements suggest that EVA may not be morphologically asymmetric as previously thought. Significance The Cincinnati criteria potentially alters the current estimation of the most common etiologies of bilateral severe-to-profound sensorineural hearing loss in the pediatric population. Support KD is a Doris Duke Clinical Research Fellow, supported by the Doris Duke Foundation.

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