scholarly journals A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct

2017 ◽  
Vol 10 (1) ◽  
pp. 50-55 ◽  
Author(s):  
Borum Sagong ◽  
Jeong-In Baek ◽  
Kyu-Yup Lee ◽  
Un-Kyung Kim
Keyword(s):  
Hearing Loss ◽  
Frameshift Mutation ◽  
Nonsyndromic Hearing Loss ◽  
Enlarged Vestibular Aqueduct ◽  
Korean Family ◽  
Vestibular Aqueduct

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.

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.

Subgroups of enlarged vestibular aqueduct in relation toSLC26A4mutations and hearing loss

2013 ◽  
Vol 124 (4) ◽  
pp. E134-E140 ◽  
Author(s):  
Yasuhide Okamoto ◽  
Hideki Mutai ◽  
Atsuko Nakano ◽  
Yukiko Arimoto ◽  
Tomoko Sugiuchi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct

scholarly journals Vestibular Aqueduct Midpoint Width and Hearing Loss in Patients With an Enlarged Vestibular Aqueduct

2017 ◽  
Vol 143 (6) ◽  
pp. 601 ◽  
Author(s):  
Mustafa S. Ascha ◽  
Nauman Manzoor ◽  
Amit Gupta ◽  
Maroun Semaan ◽  
Cliff Megerian ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct

Hearing Loss in Enlarged Vestibular Aqueduct

2020 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Haroon Shakeel Saeed ◽  
Jonny Kenth ◽  
Graeme Black ◽  
Shakeel R. Saeed ◽  
Stavros Stivaros ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct

Progressive Fluctuant Hearing Loss, Enlarged Vestibular Aqueduct, and Cochlear Hypoplasia in Branchio-oto-renal Syndrome

2001 ◽  
Vol 22 (5) ◽  
pp. 637-643 ◽  
Author(s):  
M. H. Kemperman ◽  
C. Stinckens ◽  
S. Kumar ◽  
P. L. M. Huygen ◽  
F. B. M. Joosten ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct
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