Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct

2010 ◽  
Vol 74 (7) ◽  
pp. 831-835 ◽  
Author(s):  
Yu-Fen Guo ◽  
Yan-Li Wang ◽  
Bai-Cheng Xu ◽  
Xiao-Wen Liu ◽  
Yi-Ming Zhu ◽  
...  
Keyword(s):  
Chinese Family ◽  
Novel Mutations ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct

scholarly journals Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct

2018 ◽  
Vol 12 (5) ◽  
pp. 502-506 ◽  
Author(s):  
Xuelei Zhao ◽  
Xiaohua Cheng ◽  
Lihui Huang ◽  
Xianlei Wang ◽  
Cheng Wen ◽  
...  
Keyword(s):  
Chinese Family ◽  
Compound Heterozygous ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Compound Heterozygous Mutations ◽  
I 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.

Auditory and imaging markers of atypical enlarged vestibular aqueduct

2021 ◽  
Author(s):  
Linsheng Wang ◽  
Yuanlin Qin ◽  
Laimin Zhu ◽  
Xiaoyu Li ◽  
Yueqin Chen ◽  
...  
Keyword(s):  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Imaging Markers

Two novel Mutations of the LPL Gene in two Chinese family cases with Familial Chylomicronemia Syndrome

2021 ◽  
Author(s):  
Mingying Wang ◽  
Yuantao Zhou ◽  
Xiaoli He ◽  
Chengjun Deng ◽  
Xiaoning Liu ◽  
...  
Keyword(s):  
Chinese Family ◽  
Novel Mutations ◽  
Lpl Gene

Enlarged vestibular aqueduct: Intraoperative electrocochleography findings during cochlear implantation

2020 ◽  
Vol 134 ◽  
pp. 110065
Author(s):  
William J. Riggs ◽  
Meghan M. Hiss ◽  
Varun V. Varadarajan ◽  
Jameson K. Mattingly ◽  
Oliver F. Adunka
Keyword(s):  
Cochlear Implantation ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct

Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct

2019 ◽  
Vol 140 (1) ◽  
pp. 46-50 ◽  
Author(s):  
Kristianna Mey ◽  
Lone Percy-Smith ◽  
Maria Hallstrøm ◽  
Matilde Sandvej ◽  
Per Cayé-Thomasen
Keyword(s):  
Language Acquisition ◽  
Pediatric Population ◽  
Receptive Language ◽  
Pendred Syndrome ◽  
Enlarged Vestibular Aqueduct ◽  
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
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