Prevalent SLC26A4 Mutations in Patients with Enlarged Vestibular Aqueduct and/or Mondini Dysplasia: A Unique Spectrum of Mutations in Taiwan, Including a Frequent Founder Mutation

Wu, Chen‐Chi; Yeh, Te‐Huei; Chen, Pei‐Jer; Hsu, Chuan‐Jen

doi:10.1097/01.mlg.0000163339.61909.d0

Cited by 78 publications

(114 citation statements)

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“…These molecular and radiological findings indicated that PS and the hearing-loss with EVA fall into one clinical spectrum caused by SLC26A4 mutations, i.e., hearing loss with EVA with/without goiter (Tsukamoto et al 2003). Mutation analysis of SLC26A4 performed in 54 Chinese EVA families (including an area of Mainland China, Taiwan and Singapore) identified 23 different mutations (Yong et al 2001;Dai et al 2005;Wu et al 2005;Yang et al 2005; present study), viz., 14 missense mutations, two nonsense mutations, five intronic nucleotide changes and two deletions (Table 3). Seven of them were found in more …”

Section: Discussionsupporting

confidence: 53%

“…Among these recurrent mutations, IVS7-2A>G was reported to be most frequent, and accounted for 69.1% (76/110) of all mutant alleles in the Chinese, suggesting a founder effect of this intronic mutation (Park et al 2003;Wu et al 2005;Yang et al 2005). In the present study, IVS7-2A>G was still the most frequent mutant allele, but accounted for only 22.3% (5/22) of all mutant alleles detected.…”

Section: Discussioncontrasting

confidence: 40%

“…A finding in the murine that Foxi1 is a gene regulator of pendrin suggests that human FOXI1 could be another gene causative for human hearing loss with EVA (Hulander et al 2003), but no causative mutation of FOXI1 was revealed among EVA patients without SLC26A4 mutations. To date, more than 100 SLC26A4 mutations spanning the entire coding region have been described (http://www.medicine.uiowa.edu/pendredandbor/listed_mutations.htm), and 13 of them were observed in the Chinese (Yong et al 2001;Park et al 2003;Hu et al 2005a;Wu et al 2005;Yang et al 2005). Previous studies revealed different ethnic groups have unique mutation spectra (Coyle et al 1998;Campbell et al 2001;Tsukamoto et al 2003;Wu et al 2005).…”

Section: Introductionmentioning

confidence: 99%

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Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum

Feng

et al. 2007

J Hum Genet

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It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4), both of which are associated with enlarged vestibular aqueduct (EVA). The prevalence of SLC26A4 mutations in Pendred's syndrome is clearly established in many ethnic groups, but the data from Mainland Chinese patients with deafness and EVA remain poor. In this report, 15 patients from 13 unrelated Chinese families with deafness and EVA were analyzed for SLC26A4 using direct sequencing. A total of 15 pathogenic mutations were observed in 11 unrelated families, 4 of which were novel. One mutation, IVS7-2A>G, was most common, accounting for 22.3% (5/22) of all the mutant alleles, and H723R was infrequent. To date, a total of 23 mutations have been reported among the Chinese, 13 of which were unique. In conclusion, EVA could be a radiological marker for SLC26A4 analysis among Mainland Chinese hearing-loss patients, and the SLC26A4 mutation spectrum in the Chinese was different from other reported populations.

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Section: Discussionsupporting

confidence: 53%

Section: Discussioncontrasting

confidence: 40%

Section: Introductionmentioning

confidence: 99%

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Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum

Feng

et al. 2007

J Hum Genet

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“…c.919-2AϾG is the most common SLC26A4 mutation associated with EVA among the Han Chinese and Korean populations, with allele frequencies of 0.63 among deaf Chinese with EVA in Taiwan 20 and 0.17 among deaf Koreans with EVA. 19 With no information for EVA, Chinese subjects with SNHL as a group still seem to have the highest c.919-2AϾG MAF among Asian populations: 0.087 in this study compared with 0.022 in Koreans where this variant is considered common, accounting for 36% of SLC26A4 alleles among Korean probands with SNHL in one study.…”

Section: Discussionmentioning

confidence: 99%

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss

Dai

Huang

et al. 2008

Genetics in Medicine

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Purpose: Mutations in the SLC26A4 gene are second only to GJB2 mutations as a currently identifiable genetic cause of sensorineural hearing loss. In most areas of China, genetic testing for sensorineural hearing loss is unavailable because of limited knowledge of the mutation spectrum. Although SLC26A4 c.919-2AϾG (IVS7-2AϾG) is a common mutation among some Asian populations, the mutation prevalence among various ethnic groups within China has not been studied. Methods: DNA specimens from 3271 subjects with moderate to profound sensorineural hearing loss from 27 regions of China were genotyped for the c.919-2AϾG mutation by polymerase chain reaction/restriction-fragment-length polymorphism. Normal hearing controls from Han (n ϭ 185) and Uigur (n ϭ 152) populations were also tested. Results: Overall, 408 subjects with sensorineural hearing loss (12.5%) carried at least one c.919-2AϾG allele, with 158 (4.8%) homozygotes and 250 (7.6%) heterozygotes. Within the subpopulations examined, the rate varies from 0% to 12.2% for c.919-2AϾG homozygotes and from 0% to 17.6% for heterozygotes. Based on this cohort, Chinese subjects with sensorineural hearing loss seem to have a relatively

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“…Furthermore, phenotypes are variable, even with the same mutations. T416P [25], L445W [26], H723R [21,27] and the IVS7-2A>G [28] are involved in either PS or NSHL. Moreover, even intrafamilial phenotypic variability was observed, e.g., the L445W mutation was identified in all affected individuals of a large family, either with PS or with NSHL [26].…”

Section: Slc26a4 (Pds) Deafness Mutationsmentioning

confidence: 99%

Integration of Human and Mouse Genetics Reveals Pendrin Function in Hearing and Deafness

Dror

Brownstein²,

Avraham³

2011

Cell Physiol Biochem

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Genomic technology has completely changed the way in which we are able to diagnose human genetic mutations. Genomic techniques such as the polymerase chain reaction, linkage analysis, Sanger sequencing, and most recently, massively parallel sequencing, have allowed researchers and clinicians to identify mutations for patients with Pendred syndrome and DFNB4 non-syndromic hearing loss. While thus far most of the mutations have been in the SLC26A4 gene coding for the pendrin protein, other genetic mutations may contribute to these phenotypes as well. Furthermore, mouse models for deafness have been invaluable to help determine the mechanisms for SLC26A4-associated deafness. Further work in these areas of research will help define genotype-phenotype correlations and develop methods for therapy in the future.

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Prevalent SLC26A4 Mutations in Patients with Enlarged Vestibular Aqueduct and/or Mondini Dysplasia: A Unique Spectrum of Mutations in Taiwan, Including a Frequent Founder Mutation

Cited by 78 publications

References 14 publications

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss

Integration of Human and Mouse Genetics Reveals Pendrin Function in Hearing and Deafness

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