Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome [PDF]
Molecular MedicineBackground Pathogenic variants in the SLC26A4 gene, encoding for Cl−/HCO3 − and I− anion transporter pendrin, are associated with non-syndromic hearing loss with enlarged vestibular aqueduct (NSEVA) and Pendred syndrome (PDS). In the Caucasian population,
Marek Sklenar +9 more
doaj +2 more sources
When is a Vestibular Aqueduct Enlarged?
Philippine Journal of Otolaryngology Head and Neck Surgery, 2018 A ten-year-old boy with bilateral moderate sensorineural hearing loss underwent computerized tomographic (CT) imaging (GE Brightspeed, Wisconsin, USA) of the temporal bone as part of the work-up to determine the etiology of his condition.
Nathaniel W. Yang
doaj +3 more sources
Extremely discrepant mutation spectrum of
Journal of Translational Medicine, 2011 Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity).
Yan Xiaofei +9 more
doaj +5 more sources
Diagnosis of Enlarged Vestibular Aqueduct Using Wideband Tympanometry. [PDF]
J Clin MedBackground: Wideband tympanometry (WBT) has the potential to distinguish various mechanical middle ear and inner ear pathologies noninvasively. This study investigated the diagnostic value of WBT in the diagnosis of enlarged vestibular aqueduct (EVA). Methods: The absorbance and resonance frequency (RF) of patients with EVA (40 ears, 25 patients) and ...
Ganaha A +5 more
europepmc +3 more sources
Vestibular Dysfunction in Patients with Enlarged Vestibular Aqueduct. [PDF]
Otolaryngol Head Neck Surg, 2015 ObjectiveEnlarged vestibular aqueduct (EVA) is the most common inner ear malformation. While a strong correlative relationship between EVA and hearing loss is well established, its association with vestibular dysfunction is less well understood.
Zalewski CK +7 more
europepmc +4 more sources
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct [PDF]
Molecular MedicineBackground The enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in the SLC26A4 gene, coding for the anion exchanger pendrin, are frequently involved in determining Pendred syndrome and
Emanuele Bernardinelli +7 more
doaj +2 more sources
Cerebrospinal Fluid Leak in Cochlear Implantation: Enlarged Cochlear versus Enlarged Vestibular Aqueduct (Common Cavity Excluded). [PDF]
Int J Otolaryngol, 2016 Objective. To share our experience of cerebrospinal fluid gusher in cochlear implantation in patients with enlarged cochlear or vestibular aqueduct. Study Design. Case series with comparison and a review of the literature. Methods.
Bianchin G +4 more
europepmc +5 more sources
A Novel Frameshift Mutation of in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct [PDF]
Clinical and Experimental Otorhinolaryngology, 2017 Objectives We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA).
Borum Sagong +3 more
doaj +2 more sources
Compound Heterozygosity for Two Novel Mutations in a Large Iranian Pedigree with Pendred Syndrome [PDF]
Clinical and Experimental Otorhinolaryngology, 2013 ObjectivesThe aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management ...
Nasrin Yazdanpanahi +7 more
doaj +4 more sources
A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing. [PDF]
PLoS ONE, 2016 Enlarged vestibular aqueduct (EVA) is one of the most common congenital inner ear malformations and accounts for 1-12% of sensorineural deafness in children and adolescents. Multiple genetic defects contribute to EVA; therefore, early molecular diagnosis
Yalan Liu +10 more
doaj +2 more sources