vestibular aqueduct

Summary

Summary: A small bony canal linking the vestibule of the inner ear to the posterior part of the internal surface of the petrous TEMPORAL BONE. It transmits the endolymphatic duct and two small blood vessels.

Top Publications

  1. Lai C, Shiao A. Chronological changes of hearing in pediatric patients with large vestibular aqueduct syndrome. Laryngoscope. 2004;114:832-8 pubmed
    To describe the chronologic changes of hearing in patients with large vestibular aqueduct syndrome (LVAS) and identify the prognostic factors.
  2. Mori T, Westerberg B, Atashband S, Kozak F. Natural history of hearing loss in children with enlarged vestibular aqueduct syndrome. J Otolaryngol Head Neck Surg. 2008;37:112-8 pubmed
    To determine the natural history of hearing loss in children with enlarged vestibular aqueduct (EVA) syndrome.
  3. Choi B, Kim H, Ito T, Lee K, Li X, Monahan K, et al. Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. J Clin Invest. 2011;121:4516-25 pubmed publisher
    ..These data collectively provide mechanistic insight into hearing loss caused by SLC26A4 mutations and establish a model for further studies of EVA-associated hearing loss...
  4. Wu C, Lin S, Su Y, Fang M, Chen S, Hsu C. Preimplantation genetic diagnosis (embryo screening) for enlarged vestibular aqueduct due to SLC26A4 mutation. Audiol Neurootol. 2010;15:311-7 pubmed publisher
    ..In the present study, we reported the development and application of PGD protocols to address enlarged vestibular aqueduct (EVA), which is a common type of hereditary hearing impairment associated with mutations in the SLC26A4 ..
  5. Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, et al. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet. 2006;14:773-9 pubmed
    ..unrelated families, aged from 1 to 32 years (median age: 10 years), with nonsyndromic deafness and enlarged vestibular aqueduct, were genotyped for SLC26A4 using DHPLC molecular screening and sequencing...
  6. Ito T, Noguchi Y, Yashima T, Kitamura K. SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome. Laryngoscope. 2006;116:796-9 pubmed
    The objectives of this study were to identify SIX1 gene mutations in a patient with branchio-oto syndrome (BO) and to clarify the relationship between SIX1 mutation and enlargement of the vestibular aqueduct (EVA).
  7. Cho M, Jeong S, Eom S, Park H, Park H, Lee Y, et al. The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. Endocrine. 2006;30:237-43 pubmed
    ..high frequency (65%) of a mutated PDS/SLC26A4 gene exhibited nonsyndromic deafness and an enlarged vestibular aqueduct. We report two patients with characteristics of typical Pendred syndrome, a 26-yr-old female and a 61-yr-..
  8. Azaiez H, Yang T, Prasad S, Sorensen J, Nishimura C, Kimberling W, et al. Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet. 2007;122:451-7 pubmed
    Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two recessive disorders characterized by the association of sensorineural hearing loss (SNHL) with inner ear malformations that range from isolated EVA to ..
  9. Zhou G, Gopen Q, Kenna M. Delineating the hearing loss in children with enlarged vestibular aqueduct. Laryngoscope. 2008;118:2062-6 pubmed publisher
    To explore the clinical characteristics and audiologic outcomes in children with enlarged vestibular aqueduct (EVA).

More Information

Publications62

  1. Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet. 2003;11:916-22 pubmed
    ..known to be responsible for both Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct, and the molecular confirmation of the PDS gene has become important in the diagnosis of these conditions...
  2. Ito T, Choi B, King K, Zalewski C, Muskett J, Chattaraj P, et al. SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem. 2011;28:545-52 pubmed publisher
    Enlargement of the vestibular aqueduct (EVA) is the most common inner ear anomaly detected in ears of children with sensorineural hearing loss...
  3. Wu C, Lu Y, Chen P, Yeh P, Su Y, Hwu W, et al. Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. Audiol Neurootol. 2010;15:57-66 pubmed publisher
    Recessive mutations in the SLC26A4 gene are responsible for nonsyndromic enlarged vestibular aqueduct (EVA) and Pendred syndrome...
  4. Choi B, Stewart A, Nishimura K, Cha W, Seong M, Park S, et al. Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. Genet Test Mol Biomarkers. 2009;13:679-87 pubmed publisher
    Enlargement of the vestibular aqueduct (EVA) is a commonly detected inner ear anomaly related to hearing loss and often associated with mutations of SLC26A4 encoding pendrin, a transmembrane exchanger of Cl(-), I(-), and HCO(3)(-)...
  5. Dai P, Stewart A, Chebib F, Hsu A, Rozenfeld J, Huang D, et al. Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. Physiol Genomics. 2009;38:281-90 pubmed publisher
    ..Fifty-two of 55 Chinese subjects with deafness accompanied by enlargement of the vestibular aqueduct (EVA) exhibited at least one mutant SLC26A4 allele, whereas SLC26A4 mutations were found in only 2 of 116 ..
  6. Choi B, Stewart A, Madeo A, Pryor S, Lenhard S, Kittles R, et al. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?. Hum Mutat. 2009;30:599-608 pubmed publisher
    Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl(-)/I(-)/HCO(3)(-) exchanger...
  7. Jonard L, Niasme Grare M, Bonnet C, Feldmann D, Rouillon I, Loundon N, et al. Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol. 2010;74:1049-53 pubmed publisher
    To investigate the implication of SLC26A4, FOXI and KCNJ10 genes in unilateral hearing impairment associated with ipsilateral inner ear malformation (Enlargement of the vestibular aqueduct and/or Mondini dysplasia).
  8. Mercer S, Mutton P, Dahl H. Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis. Genet Test Mol Biomarkers. 2011;15:365-8 pubmed publisher
    Mutations in the SLC26A4 gene can cause both Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct, two conditions associated with sensorineural hearing loss...
  9. Merchant S, Nakajima H, Halpin C, Nadol J, Lee D, Innis W, et al. Clinical investigation and mechanism of air-bone gaps in large vestibular aqueduct syndrome. Ann Otol Rhinol Laryngol. 2007;116:532-41 pubmed
    Patients with large vestibular aqueduct syndrome (LVAS) often demonstrate an air-bone gap at the low frequencies on audiometric testing. The mechanism causing such a gap has not been well elucidated...
  10. Kemperman M, Stinckens C, Kumar S, Huygen P, Joosten F, Cremers C. Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome. Otol Neurotol. 2001;22:637-43 pubmed
    ..To study the results of petrosal bone imaging and audiometric long-term follow-up of two patients with branchio-oto-renal (BOR) syndrome and relate them to the clinical features, including caloric responses...
  11. Bogazzi F, Russo D, Raggi F, Ultimieri F, Berrettini S, Forli F, et al. Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct. J Endocrinol Invest. 2004;27:430-5 pubmed
    Pendred syndrome and the enlarged vestibular aqueduct (EVA) are considered phenotypic variations of the same entity due to mutations in the SLC26A4 (pendrin) gene...
  12. Miyamoto R, Bichey B, Wynne M, Kirk K. Cochlear implantation with large vestibular aqueduct syndrome. Laryngoscope. 2002;112:1178-82 pubmed
    ..we report the outcomes of 14 adults (age >18 y) and 9 children (age <18 y) with radiographically proven large vestibular aqueduct syndrome (LVAS) who received cochlear implants at Indiana University School of Medicine.
  13. Joshua B, Kaplan D, Raveh E, Lotan D, Anikster Y. Audiometric and imaging characteristics of distal renal tubular acidosis and deafness. J Laryngol Otol. 2008;122:193-8 pubmed
    ..The aim of this study was to characterise the phenotype of this disease, with emphasis on the auditory findings, in a cohort of Israeli children...
  14. Pourova R, Janousek P, Jurovcik M, Dvoráková M, Malíková M, Rasková D, et al. Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). Ann Hum Genet. 2010;74:299-307 pubmed publisher
    ..with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD)...
  15. Marques S, Smith R, Isotani S, Alonso L, Anadão C, Prates J, et al. Morphological analysis of the vestibular aqueduct by computerized tomography images. Eur J Radiol. 2007;61:79-83 pubmed
    ..Therefore, the aim of this study is to analyze the morphology and morphometric aspects of the vestibular aqueduct on the basis of computerized tomography images (CTI).
  16. Pera A, Dossena S, Rodighiero S, Gandía M, Botta G, Meyer G, et al. Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. Proc Natl Acad Sci U S A. 2008;105:18608-13 pubmed publisher
    ..characterized by sensorineural hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct (EVA) to Mondini malformation, and deficient iodide organification in the thyroid gland...
  17. King K, Choi B, Zalewski C, Madeo A, Manichaikul A, Pryor S, et al. SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. Laryngoscope. 2010;120:384-9 pubmed publisher
    ..among SLC26A4 genotype, cochlear structural anomalies, and hearing loss associated with enlargement of the vestibular aqueduct (EVA)...
  18. Goldfeld M, Glaser B, Nassir E, Gomori J, Hazani E, Bishara N. CT of the ear in Pendred syndrome. Radiology. 2005;235:537-40 pubmed
    ..To prospectively determine the structural anomalies of the inner ear by using thin-section computed tomography (CT) in an extended family with Pendred syndrome...
  19. Griffith A, Wangemann P. Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models. Hear Res. 2011;281:11-7 pubmed publisher
    Enlargement of the vestibular aqueduct (EVA) is one of the most common inner ear malformations associated with sensorineural hearing loss in children...
  20. Lin C, Lin S, Kao C, Wu J. The remediation of hearing deterioration in children with large vestibular aqueduct syndrome. Auris Nasus Larynx. 2005;32:99-105 pubmed
    Based on imaging findings, large vestibular aqueduct syndrome (LVAS) in early childhood is the most common cause of sensorineural hearing loss. Children with LVAS are at a high risk of suffering sudden deteriorations in hearing...
  21. Pryor S, Madeo A, Reynolds J, Sarlis N, Arnos K, Nance W, et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet. 2005;42:159-65 pubmed
  22. Reardon W, OMahoney C, Trembath R, Jan H, Phelps P. Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. QJM. 2000;93:99-104 pubmed
    ..Malformations of the inner ear, specifically enlargement of the vestibular aqueduct, are common in Pendred syndrome and mutations in the PDS (Pendred Syndrome) gene have been recorded in ..
  23. Grimmer J, Hedlund G, Park A. Steroid treatment of hearing loss in enlarged vestibular aqueduct anomaly. Int J Pediatr Otorhinolaryngol. 2008;72:1711-5 pubmed publisher
    1. Determine whether corticosteroid therapy improves hearing thresholds of patients with enlarged vestibular aqueduct (EVA) anomaly. 2. Determine sample size for a future prospective study.
  24. Bilgen C, Kirkim G, Kirazli T. Middle ear impedance measurements in large vestibular aqueduct syndrome. Auris Nasus Larynx. 2009;36:263-8 pubmed publisher
    To assess the effect of inner ear pressure on middle ear impedance in patients with large vestibular aqueduct syndrome (LVAS).
  25. Swartz J. An overview of congenital/developmental sensorineural hearing loss with emphasis on the vestibular aqueduct syndrome. Semin Ultrasound CT MR. 2004;25:353-68 pubmed
    ..focuses on the most common cause of this type of hearing loss for which there are imaging findings: the vestibular aqueduct syndrome. The normal anatomy of the vestibular aqueduct is discussed in detail...
  26. Oh S, Choi B, Son K, Lee K, Chang S, Kim C. Can magnetic resonance imaging provide clues to the inner ear functional status of enlarged vestibular aqueduct subjects with PDS mutation?. Otol Neurotol. 2008;29:593-600 pubmed publisher
    ..and T2*-weighted 3-dimensional (3-D) constructive interference in steady state (CISS) MR images that were obtained from a homogenous group of patients with an enlarged vestibular aqueduct (EVA) associated with SLC264 (PDS) mutations.
  27. Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J, et al. Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. J Hum Genet. 2007;52:492-7 pubmed
    ..syndrome), as well as in congenital isolated deafness (DFNB4), both of which are associated with enlarged vestibular aqueduct (EVA)...
  28. Ito T, Noguchi Y, Yashima T, Ohno K, Kitamura K. Hereditary hearing loss and deafness genes in Japan. J Med Dent Sci. 2010;57:1-10 pubmed
    ..Finally, the genes related to the enlargement of vestibular aqueduct of inner ear abnormality, SLC26A4, EYA1 and SIX1 are discussed...
  29. Yang J, Tsai C, Hsu H, Shiao J, Su C, Li S. Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Hear Res. 2005;199:22-30 pubmed
    ..hearing loss associated with temporal bone abnormalities ranging from isolated enlargement of the vestibular aqueduct (EVA) to Mondini dysplasia...
  30. Wang Q, Zhao Y, Rao S, Guo Y, Yuan H, Zong L, et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet. 2007;72:245-54 pubmed
    There is a worldwide interest in studying SLC26A4 mutations that are responsible for enlarged vestibular aqueduct (EVA) in different ethnic background and populations...
  31. Hulander M, Kiernan A, Blomqvist S, Carlsson P, Samuelsson E, Johansson B, et al. Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice. Development. 2003;130:2013-25 pubmed
    ..Thus, mutations in FOXI1 could prove to cause a Pendred syndrome-like human deafness...
  32. Berrettini S, Neri E, Forli F, Panconi M, Massimetti M, Ravecca F, et al. Large vestibular aqueduct in distal renal tubular acidosis. High-resolution MR in three cases. Acta Radiol. 2001;42:320-2 pubmed
  33. Park H, Lee S, Jin H, Lee J, Go S, Jang H, et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet. 2005;67:160-5 pubmed
    Sensorineural hearing loss associated with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene...
  34. Shinjo Y, Kaga K, Igarashi T. Distal renal tubular acidosis associated with large vestibular aqueduct and sensorineural hearing loss. Acta Otolaryngol. 2005;125:667-70 pubmed
    Hearing loss and equilibrium dysfunction have different etiologies in patients with large vestibular aqueduct syndrome...
  35. Iwasaki S, Tsukamoto K, Usami S, Misawa K, Mizuta K, Mineta H. Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct. J Hum Genet. 2006;51:805-10 pubmed
    Pendred syndrome and non-syndromic recessive deafness associated with enlarged vestibular aqueduct (NSRD with EVA) are caused by mutations in the SLC26A4 (PDS) gene...
  36. Fahy C, Carney A, Nikolopoulos T, Ludman C, Gibbin K. Cochlear implantation in children with large vestibular aqueduct syndrome and a review of the syndrome. Int J Pediatr Otorhinolaryngol. 2001;59:207-15 pubmed
    Children with Large Vestibular Aqueduct Syndrome (LVAS) frequently develop speech and language skills prior to deterioration of their hearing...
  37. Usami S, Abe S, Weston M, Shinkawa H, Van Camp G, Kimberling W. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet. 1999;104:188-92 pubmed
    Enlarged vestibular aqueduct (EVA), known as the most common form of inner ear abnormality, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner...
  38. Chen X, Liu B, Liu S, Mo L, Liu H, Dong R, et al. The development of auditory skills in infants with isolated Large Vestibular Aqueduct Syndrome after cochlear implantation. Int J Pediatr Otorhinolaryngol. 2011;75:943-7 pubmed publisher
    The purpose of this study was to investigate the auditory performance of infants with isolated Large Vestibular Aqueduct Syndrome (LVAS) after cochlear implantation, compare their performance with those of infants with a normal inner ear,..
  39. Yao G, Li S, Chen D, Wang H, Zhang J, Feng Z, et al. Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol. 2013;77:544-9 pubmed publisher
    Enlarged vestibular aqueduct is the most common inner ear malformation in individuals with sensorineural hearing loss. Mutations in SLC26A4 can cause non-syndromic EVA. To date, more than 170 SLC26A4 mutations have been described...
  40. Boston M, Halsted M, Meinzen Derr J, Bean J, Vijayasekaran S, Arjmand E, et al. The large vestibular aqueduct: a new definition based on audiologic and computed tomography correlation. Otolaryngol Head Neck Surg. 2007;136:972-7 pubmed
    The study goal was to determine the prevalence and clinical significance of a large vestibular aqueduct (LVA) in children with sensorineural hearing loss (SNHL).
  41. Reyes S, Wang G, Ouyang X, Han B, Du L, Yuan H, et al. Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. Otolaryngol Head Neck Surg. 2009;141:502-8 pubmed publisher
    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).
  42. Wu C, Chen Y, Chen P, Hsu C. Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia. Laryngoscope. 2005;115:132-7 pubmed
  43. Bichey B, Hoversland J, Wynne M, Miyamoto R. Changes in quality of life and the cost-utility associated with cochlear implantation in patients with large vestibular aqueduct syndrome. Otol Neurotol. 2002;23:323-7 pubmed
    A group of 20 patients with large vestibular aqueduct syndrome was identified at the Indiana University School of Medicine...
  44. Govaerts P, Casselman J, Daemers K, De Ceulaer G, Somers T, Offeciers F. Audiological findings in large vestibular aqueduct syndrome. Int J Pediatr Otorhinolaryngol. 1999;51:157-64 pubmed
    An enlarged vestibular aqueduct is a congenital disorder causing early onset and progressive hearing loss in children...
  45. Spiegel J, Lalwani A. Large vestibular aqueduct syndrome and endolymphatic hydrops: two presentations of a common primary inner-ear dysfunction?. J Laryngol Otol. 2009;123:919-21 pubmed publisher
    To present the theory that large vestibular aqueduct syndrome (i.e...
  46. Yang T, Vidarsson H, Rodrigo Blomqvist S, Rosengren S, Enerback S, Smith R. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet. 2007;80:1055-63 pubmed
    ..known to be responsible for Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA), also known as "DFNB4," a large percentage of patients with this phenotype lack mutations ..
  47. Berrettini S, Forli F, Bogazzi F, Neri E, Salvatori L, Casani A, et al. Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features. Am J Otolaryngol. 2005;26:363-71 pubmed
    The aim of this study was to analyze the clinical, audiological, radiological, and genetic features of a group of patients affected with large vestibular aqueduct syndrome.
  48. Lee K, Lee J, Isaacson B, Kutz J, Roland P. Cochlear implantation in children with enlarged vestibular aqueduct. Laryngoscope. 2010;120:1675-81 pubmed publisher
    To determine audiometric outcomes and complications of cochlear implantation in patients with enlarged vestibular aqueduct (EVA).
  49. Wu C, Yeh T, Chen P, Hsu C. 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. Laryngoscope. 2005;115:1060-4 pubmed
    The purpose of the study is to elucidate the mutation spectrum of SLC26A4 among patients with enlarged vestibular aqueduct and/or Mondini dysplasia in Taiwan and to explore the origin of the most common mutation, IVS7-2A>G...
  50. Huang S, Han D, Yuan Y, Wang G, Kang D, Zhang X, et al. Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. J Transl Med. 2011;9:167 pubmed publisher
    ..loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity)...
  51. Gopen Q, Zhou G, Whittemore K, Kenna M. Enlarged vestibular aqueduct: review of controversial aspects. Laryngoscope. 2011;121:1971-8 pubmed publisher
    To review the controversial aspects of the enlarged vestibular aqueduct syndrome.
  52. Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, et al. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet. 2004;66:333-40 pubmed
    ..The main clinical characteristics were: early hearing loss, fluctuation in terms of during deafness evolution, and the presence of an enlarged vestibular aqueduct.
  53. Kitamura K, Takahashi K, Noguchi Y, Kuroishikawa Y, Tamagawa Y, Ishikawa K, et al. Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. Acta Otolaryngol. 2000;120:137-41 pubmed
    ..Both mutations are situated in the extracellular domain close to the C terminal. It thus appears that PDS mutations can lead not only to classic Pendred syndrome, but also to large vestibular aqueduct syndrome.