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Pu Dai - One of the best experts on this subject based on the ideXlab platform.
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The KCNJ10 c.812G>A mutation identified in Chinese patients with nonsyndromic enlargement of Vestibular Aqueduct (NSEVA).
2014Co-Authors: Jiandong Zhao, Shasha Huang, Dongyi Han, Yongyi Yuan, Guojian Wang, Dongyang Kang, Bangqing Huang, Jing Cheng, Pu DaiAbstract:wt, wild-type; P, father of proband (paternal); M, mother of proband (maternal).The KCNJ10 c.812G>A mutation identified in Chinese patients with nonsyndromic enlargement of Vestibular Aqueduct (NSEVA).
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KCNJ10 May Not Be a Contributor to Nonsyndromic Enlargement of Vestibular Aqueduct (NSEVA) in Chinese Subjects
2014Co-Authors: Jiandong Zhao, Shasha Huang, Dongyi Han, Yongyi Yuan, Guojian Wang, Dongyang Kang, Bangqing Huang, Jing Cheng, Pu DaiAbstract:BackgroundNonsyndromic enlargement of Vestibular Aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4. However, not all patients with NSEVA carry biallelic mutations in SLC26A4. A recent study proposed that single mutations in both SLC26A4 and KCNJ10 lead to digenic NSEVA. We examined whether KCNJ10 excert a role in the pathogenesis of NSEVA in Chinese patients.MethodsSLC26A4 was sequenced in 1056 Chinese patients with NSEVA. KCNJ10 was screened in 131 patients who lacked mutations in either one or both alleles of SLC26A4. Additionally, KCNJ10 was screened in 840 controls, including 563 patients diagnosed with NSEVA who carried biallelic SLC26A4 mutations, 48 patients with nonsyndromic hearing loss due to inner ear malformations that did not involve enlargement of the Vestibular Aqueduct (EVA), 96 patients with conductive hearing loss due to various causes, and 133 normal-hearing individuals with no family history of hereditary hearing loss.Results925 NSEVA patients were found carrying two-allele pathogenic SLC26A4 mutations. The most frequently detected KCNJ10 mutation was c.812G>A (p.R271H). Compared with the normal-hearing control subjects, the occurrence rate of c.812G>A in NSEVA patients with lacking mutations in one or both alleles of SLC26A4 had no significant difference(1.53% vs. 5.30%, χ2 = 2.798, p = 0.172), which suggested that it is probably a nonpathogenic benign variant. KCNJ10 c.1042C>T (p.R348C), the reported EVA-related mutation, was not found in patients with NSEVA who lacked mutations in either one or both alleles of SLC26A4. Furthermore, the normal-hearing parents of patients with NSEVA having two SLC26A4 mutations carried the KCNJ10 c.1042C>T or c.812G>A mutation and a SLC26A4 pathogenic mutation.ConclusionSLC26A4 is the major genetic cause in Chinese NSEVA patients, accounting for 87.59%. KCNJ10 may not be a contributor to NSEVA in Chinese population. Other genetic or environmental factors are possibly play a role in the etiology of Chinese EVA patients with zero or monoallelic SLC26A4 mutation.
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Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged Vestibular Aqueduct
Journal of Translational Medicine, 2011Co-Authors: Shasha Huang, Dongyi Han, Yongyi Yuan, Guojian Wang, Dongyang Kang, Xin Zhang, Xiaofei Yan, Xiaoxiao Meng, Min Dong, Pu DaiAbstract: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). The relationship between mutations in SLC26A4 and Mondini deformity without enlarged Vestibular Aqueduct has not been studied in any Chinese deaf population. The purpose of this study was to assess whether mutations in the SLC26A4 gene cause Mondini deformity without an enlarged Vestibular Aqueduct (isolated Mondini deformity) in a Chinese population.
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original research otologymutation analysis of slc26a4 in mainland chinese patients with enlarged Vestibular Aqueduct
Otolaryngology-Head and Neck Surgery, 2009Co-Authors: Samuel Reyes, Guojian Wang, Pu Dai, Xiaomei Ouyang, Bing Han, Hui Jun Yuan, Denise Yan, X LiuAbstract:Objective We have characterized the spectrum of SLC26A4 mutations and clinical features in a population of mainland Chinese patients with nonsyndromic sensorineural hearing loss (SNHL) and enlarged Vestibular Aqueduct (EVA).
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mutation analysis of slc26a4 in mainland chinese patients with enlarged Vestibular Aqueduct
Otolaryngology-Head and Neck Surgery, 2009Co-Authors: Samuel Reyes, Guojian Wang, Pu Dai, Xiaomei Ouyang, Bing Han, Hui Jun Yuan, Denise Yan, X LiuAbstract:OBJECTIVE: We have characterized the spectrum of SLC26A4 mutations and clinical features in a population of mainland Chinese patients with nonsyndromic sensorineural hearing loss (SNHL) and enlarged Vestibular Aqueduct (EVA).STUDY DESIGN: Cross-sectional clinical genetic study.SETTING: Tertiary care outpatient otolaryngology clinic.METHODS: A total of 32 subjects identified with bilateral EVA using high-resolution CT were screened for mutations in SLC26A4 by denaturing high-performance liquid chromatography and direct sequencing methods.RESULTS: A total of 13 different mutations were identified in the SLC26A4 gene, five of which are novel. A total of 88 percent of the patients harbored biallelic mutations, 11 patients were homozygotes, and 17 were compound heterozygotes. Four patients were found to carry a single SLC26A4 mutation. The IVS7-2A>G mutation was the most frequent, accounting for 60 percent of the mutant alleles. We have not found any correlations between the type of SLC26A4 mutations and the t...
Guojian Wang - One of the best experts on this subject based on the ideXlab platform.
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The KCNJ10 c.812G>A mutation identified in Chinese patients with nonsyndromic enlargement of Vestibular Aqueduct (NSEVA).
2014Co-Authors: Jiandong Zhao, Shasha Huang, Dongyi Han, Yongyi Yuan, Guojian Wang, Dongyang Kang, Bangqing Huang, Jing Cheng, Pu DaiAbstract:wt, wild-type; P, father of proband (paternal); M, mother of proband (maternal).The KCNJ10 c.812G>A mutation identified in Chinese patients with nonsyndromic enlargement of Vestibular Aqueduct (NSEVA).
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KCNJ10 May Not Be a Contributor to Nonsyndromic Enlargement of Vestibular Aqueduct (NSEVA) in Chinese Subjects
2014Co-Authors: Jiandong Zhao, Shasha Huang, Dongyi Han, Yongyi Yuan, Guojian Wang, Dongyang Kang, Bangqing Huang, Jing Cheng, Pu DaiAbstract:BackgroundNonsyndromic enlargement of Vestibular Aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4. However, not all patients with NSEVA carry biallelic mutations in SLC26A4. A recent study proposed that single mutations in both SLC26A4 and KCNJ10 lead to digenic NSEVA. We examined whether KCNJ10 excert a role in the pathogenesis of NSEVA in Chinese patients.MethodsSLC26A4 was sequenced in 1056 Chinese patients with NSEVA. KCNJ10 was screened in 131 patients who lacked mutations in either one or both alleles of SLC26A4. Additionally, KCNJ10 was screened in 840 controls, including 563 patients diagnosed with NSEVA who carried biallelic SLC26A4 mutations, 48 patients with nonsyndromic hearing loss due to inner ear malformations that did not involve enlargement of the Vestibular Aqueduct (EVA), 96 patients with conductive hearing loss due to various causes, and 133 normal-hearing individuals with no family history of hereditary hearing loss.Results925 NSEVA patients were found carrying two-allele pathogenic SLC26A4 mutations. The most frequently detected KCNJ10 mutation was c.812G>A (p.R271H). Compared with the normal-hearing control subjects, the occurrence rate of c.812G>A in NSEVA patients with lacking mutations in one or both alleles of SLC26A4 had no significant difference(1.53% vs. 5.30%, χ2 = 2.798, p = 0.172), which suggested that it is probably a nonpathogenic benign variant. KCNJ10 c.1042C>T (p.R348C), the reported EVA-related mutation, was not found in patients with NSEVA who lacked mutations in either one or both alleles of SLC26A4. Furthermore, the normal-hearing parents of patients with NSEVA having two SLC26A4 mutations carried the KCNJ10 c.1042C>T or c.812G>A mutation and a SLC26A4 pathogenic mutation.ConclusionSLC26A4 is the major genetic cause in Chinese NSEVA patients, accounting for 87.59%. KCNJ10 may not be a contributor to NSEVA in Chinese population. Other genetic or environmental factors are possibly play a role in the etiology of Chinese EVA patients with zero or monoallelic SLC26A4 mutation.
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Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged Vestibular Aqueduct
Journal of Translational Medicine, 2011Co-Authors: Shasha Huang, Dongyi Han, Yongyi Yuan, Guojian Wang, Dongyang Kang, Xin Zhang, Xiaofei Yan, Xiaoxiao Meng, Min Dong, Pu DaiAbstract: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). The relationship between mutations in SLC26A4 and Mondini deformity without enlarged Vestibular Aqueduct has not been studied in any Chinese deaf population. The purpose of this study was to assess whether mutations in the SLC26A4 gene cause Mondini deformity without an enlarged Vestibular Aqueduct (isolated Mondini deformity) in a Chinese population.
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original research otologymutation analysis of slc26a4 in mainland chinese patients with enlarged Vestibular Aqueduct
Otolaryngology-Head and Neck Surgery, 2009Co-Authors: Samuel Reyes, Guojian Wang, Pu Dai, Xiaomei Ouyang, Bing Han, Hui Jun Yuan, Denise Yan, X LiuAbstract:Objective We have characterized the spectrum of SLC26A4 mutations and clinical features in a population of mainland Chinese patients with nonsyndromic sensorineural hearing loss (SNHL) and enlarged Vestibular Aqueduct (EVA).
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mutation analysis of slc26a4 in mainland chinese patients with enlarged Vestibular Aqueduct
Otolaryngology-Head and Neck Surgery, 2009Co-Authors: Samuel Reyes, Guojian Wang, Pu Dai, Xiaomei Ouyang, Bing Han, Hui Jun Yuan, Denise Yan, X LiuAbstract:OBJECTIVE: We have characterized the spectrum of SLC26A4 mutations and clinical features in a population of mainland Chinese patients with nonsyndromic sensorineural hearing loss (SNHL) and enlarged Vestibular Aqueduct (EVA).STUDY DESIGN: Cross-sectional clinical genetic study.SETTING: Tertiary care outpatient otolaryngology clinic.METHODS: A total of 32 subjects identified with bilateral EVA using high-resolution CT were screened for mutations in SLC26A4 by denaturing high-performance liquid chromatography and direct sequencing methods.RESULTS: A total of 13 different mutations were identified in the SLC26A4 gene, five of which are novel. A total of 88 percent of the patients harbored biallelic mutations, 11 patients were homozygotes, and 17 were compound heterozygotes. Four patients were found to carry a single SLC26A4 mutation. The IVS7-2A>G mutation was the most frequent, accounting for 60 percent of the mutant alleles. We have not found any correlations between the type of SLC26A4 mutations and the t...
Carmen C Brewer - One of the best experts on this subject based on the ideXlab platform.
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slc26a4 linked ceva haplotype correlates with phenotype in patients with enlargement of the Vestibular Aqueduct
BMC Medical Genetics, 2019Co-Authors: Wade W Chien, Kelly A King, Carmen C Brewer, Parna Chattaraj, Christopher K Zalewski, Janet Ren Chao, Tina Munjal, Keiji Honda, Andrew J GriffithAbstract:Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the Vestibular Aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead to multinodular goiter as part of Pendred syndrome. A haplotype of variants upstream of SLC26A4, called CEVA, acts as a pathogenic recessive allele in trans to mutations affecting the coding regions or splice sites of SLC26A4. Our first hypothesis is that CEVA, acting as a pathogenic recessive allele, is correlated with a less severe phenotype than mutations affecting the coding regions and splice sites of SLC26A4. Our second hypothesis is that CEVA acts as a modifier of the phenotype in patients with EVA caused by mutations affecting the coding regions or splice sites of both alleles of SLC26A4 or EVA caused by other factors.
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Vestibular dysfunction in patients with enlarged Vestibular Aqueduct
Otolaryngology-Head and Neck Surgery, 2014Co-Authors: Chris Zalewski, Wade W Chien, Kelly A King, Julie A Muskett, Rachel E Baron, John A Butman, Andrew J Griffith, Carmen C BrewerAbstract: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. In this study, we examine the effects of EVA on the Vestibular system in patients with EVA.Study DesignProspective, cross-sectional study of a cohort ascertained between 1999 and 2013.SettingNational Institutes of Health Clinical Center, a federal biomedical research facility.Subjects and MethodsIn total, 106 patients with unilateral or bilateral EVA, defined as a midpoint diameter greater than 1.5 mm, were referred or self-referred to participate in a study of the clinical and molecular aspects of EVA. Clinical history was ascertained with respect to the presence or absence of various Vestibular signs and symptoms and history of head trauma. Videonystagmography (VNG), cervical Vestibular evoked myogenic potential (cVEMP), and rotational Vestibular testing (RVT) w...
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slc26a4 genotypes and phenotypes associated with enlargement of the Vestibular Aqueduct
Cellular Physiology and Biochemistry, 2011Co-Authors: Taku Ito, Kelly A King, Julie A Muskett, John A Butman, Parna Chattaraj, Byung Yoon Choi, Christopher K Zalewski, Thomas H Shawker, James C Reynolds, Carmen C BrewerAbstract:Enlargement of the Vestibular Aqueduct (EVA) is the most common inner ear anomaly detected in ears of children with sensorineural hearing loss. Pendred syndrome (PS) is an autosomal recessive disorder characterized by bilateral sensorineural hearing loss with EVA and an iodine organification defect that can lead to thyroid goiter. Pendred syndrome is caused by mutations of the SLC26A4 gene. SLC26A4 mutations may also be identified in some patients with nonsyndromic EVA (NSEVA). The presence of two mutant alleles of SLC26A4 is correlated with bilateral EVA and Pendred syndrome, whereas unilateral EVA and NSEVA are correlated with one (M1) or zero (M0) mutant alleles of SLC26A4. Thyroid gland enlargement (goiter) appears to be primarily dependent on the presence of two mutant alleles of SLC26A4 in pediatric patients, but not in older patients. In M1 families, EVA may be associated with a second, undetected SLC26A4 mutation or epigenetic modifications. In M0 families, there is probably etiologic heterogeneity that includes causes other than, or in addition to, monogenic inheritance.
X Liu - One of the best experts on this subject based on the ideXlab platform.
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Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged Vestibular Aqueduct.
The Journal of Laryngology & Otology, 2012Co-Authors: R Lai, F Zhu, G Zhu, R Vivero, A Peng, Z Xiao, X Liu, D XieAbstract:Objective: 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.
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original research otologymutation analysis of slc26a4 in mainland chinese patients with enlarged Vestibular Aqueduct
Otolaryngology-Head and Neck Surgery, 2009Co-Authors: Samuel Reyes, Guojian Wang, Pu Dai, Xiaomei Ouyang, Bing Han, Hui Jun Yuan, Denise Yan, X LiuAbstract:Objective We have characterized the spectrum of SLC26A4 mutations and clinical features in a population of mainland Chinese patients with nonsyndromic sensorineural hearing loss (SNHL) and enlarged Vestibular Aqueduct (EVA).
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mutation analysis of slc26a4 in mainland chinese patients with enlarged Vestibular Aqueduct
Otolaryngology-Head and Neck Surgery, 2009Co-Authors: Samuel Reyes, Guojian Wang, Pu Dai, Xiaomei Ouyang, Bing Han, Hui Jun Yuan, Denise Yan, X LiuAbstract:OBJECTIVE: We have characterized the spectrum of SLC26A4 mutations and clinical features in a population of mainland Chinese patients with nonsyndromic sensorineural hearing loss (SNHL) and enlarged Vestibular Aqueduct (EVA).STUDY DESIGN: Cross-sectional clinical genetic study.SETTING: Tertiary care outpatient otolaryngology clinic.METHODS: A total of 32 subjects identified with bilateral EVA using high-resolution CT were screened for mutations in SLC26A4 by denaturing high-performance liquid chromatography and direct sequencing methods.RESULTS: A total of 13 different mutations were identified in the SLC26A4 gene, five of which are novel. A total of 88 percent of the patients harbored biallelic mutations, 11 patients were homozygotes, and 17 were compound heterozygotes. Four patients were found to carry a single SLC26A4 mutation. The IVS7-2A>G mutation was the most frequent, accounting for 60 percent of the mutant alleles. We have not found any correlations between the type of SLC26A4 mutations and the t...
Kelly A King - One of the best experts on this subject based on the ideXlab platform.
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slc26a4 linked ceva haplotype correlates with phenotype in patients with enlargement of the Vestibular Aqueduct
BMC Medical Genetics, 2019Co-Authors: Wade W Chien, Kelly A King, Carmen C Brewer, Parna Chattaraj, Christopher K Zalewski, Janet Ren Chao, Tina Munjal, Keiji Honda, Andrew J GriffithAbstract:Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the Vestibular Aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead to multinodular goiter as part of Pendred syndrome. A haplotype of variants upstream of SLC26A4, called CEVA, acts as a pathogenic recessive allele in trans to mutations affecting the coding regions or splice sites of SLC26A4. Our first hypothesis is that CEVA, acting as a pathogenic recessive allele, is correlated with a less severe phenotype than mutations affecting the coding regions and splice sites of SLC26A4. Our second hypothesis is that CEVA acts as a modifier of the phenotype in patients with EVA caused by mutations affecting the coding regions or splice sites of both alleles of SLC26A4 or EVA caused by other factors.
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Vestibular dysfunction in patients with enlarged Vestibular Aqueduct
Otolaryngology-Head and Neck Surgery, 2014Co-Authors: Chris Zalewski, Wade W Chien, Kelly A King, Julie A Muskett, Rachel E Baron, John A Butman, Andrew J Griffith, Carmen C BrewerAbstract: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. In this study, we examine the effects of EVA on the Vestibular system in patients with EVA.Study DesignProspective, cross-sectional study of a cohort ascertained between 1999 and 2013.SettingNational Institutes of Health Clinical Center, a federal biomedical research facility.Subjects and MethodsIn total, 106 patients with unilateral or bilateral EVA, defined as a midpoint diameter greater than 1.5 mm, were referred or self-referred to participate in a study of the clinical and molecular aspects of EVA. Clinical history was ascertained with respect to the presence or absence of various Vestibular signs and symptoms and history of head trauma. Videonystagmography (VNG), cervical Vestibular evoked myogenic potential (cVEMP), and rotational Vestibular testing (RVT) w...
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slc26a4 genotypes and phenotypes associated with enlargement of the Vestibular Aqueduct
Cellular Physiology and Biochemistry, 2011Co-Authors: Taku Ito, Kelly A King, Julie A Muskett, John A Butman, Parna Chattaraj, Byung Yoon Choi, Christopher K Zalewski, Thomas H Shawker, James C Reynolds, Carmen C BrewerAbstract:Enlargement of the Vestibular Aqueduct (EVA) is the most common inner ear anomaly detected in ears of children with sensorineural hearing loss. Pendred syndrome (PS) is an autosomal recessive disorder characterized by bilateral sensorineural hearing loss with EVA and an iodine organification defect that can lead to thyroid goiter. Pendred syndrome is caused by mutations of the SLC26A4 gene. SLC26A4 mutations may also be identified in some patients with nonsyndromic EVA (NSEVA). The presence of two mutant alleles of SLC26A4 is correlated with bilateral EVA and Pendred syndrome, whereas unilateral EVA and NSEVA are correlated with one (M1) or zero (M0) mutant alleles of SLC26A4. Thyroid gland enlargement (goiter) appears to be primarily dependent on the presence of two mutant alleles of SLC26A4 in pediatric patients, but not in older patients. In M1 families, EVA may be associated with a second, undetected SLC26A4 mutation or epigenetic modifications. In M0 families, there is probably etiologic heterogeneity that includes causes other than, or in addition to, monogenic inheritance.
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slc26a4 genotype but not cochlear radiologic structure is correlated with hearing loss in ears with an enlarged Vestibular Aqueduct
Laryngoscope, 2010Co-Authors: Kelly A King, Byung Yoon Choi, Christopher K Zalewski, Jeffrey H Kim, Anne C Madeo, Ani Manichaikul, Shannon P Pryor, Anne Ferruggiaro, David J EisenmanAbstract:Objectives/Hypothesis Identify correlations among SLC26A4 genotype, cochlear structural anomalies, and hearing loss associated with enlargement of the Vestibular Aqueduct (EVA).
