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P. Seeman, M. Malíková, D. Rašková, O. Bendová, Dániel Gróh, M. Kubálková, I. Sakmaryová, E. Seemanová, Z. Kabelka (2004)
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre‐lingual deafnessClinical Genetics, 66
A. Adato, L. Raskin, C. Petit, B. Bonné-Tamir (2000)
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locusEuropean Journal of Human Genetics, 8
S. Pryor, A. Madeo, J. Reynolds, N. Sarlis, K. Arnos, W. Nance, Y. Yang, C. Zalewski, C. Brewer, J. Butman, A. Griffith (2005)
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 entitiesJournal of Medical Genetics, 42
H. Blons, Delphine Feldmann, Duval, O. Messaz, F. Denoyelle, N. Loundon, A. Sergout-Allaoui, M. Houang, F. Duriez, D. Lacombe, B. Delobel, J. Leman, H. Catros, Hubert Journel, Drouin-Garraud, Obstoy Mf, A. Toutain, S. Oden, Toublanc Je, Rémy Couderc, Christine Petit, E. Garabédian, Sandrine Marlin (2004)
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneityClinical Genetics, 66
Tao Yang, José Gurrola, Hao Wu, Sui Chiu, P. Wangemann, P. Snyder, Richard Smith (2009)
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.American journal of human genetics, 84 5
A. Pera, M. Villamar, Antonio Viñuela, Marta Gandía, C. Medá, F. Moreno, C. Hernández‐Chico (2008)
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.European Journal of Human Genetics, 16
Sébastien Albert, H. Blons, L. Jonard, D. Feldmann, P. Chauvin, N. Loundon, Annie Sergent-Allaoui, M. Houang, A. Joannard, S. Schmerber, B. Delobel, J. Leman, H. Journel, H. Catros, H. Dollfus, Marie-Madeleine Eliot, A. David, C. Calais, V. Drouin‐Garraud, Marie-Françoise Obstoy, P. Huy, D. Lacombe, F. Duriez, C. Francannet, P. Bitoun, C. Petit, E. Garabédian, R. Couderc, S. Marlin, F. Denoyelle (2006)
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populationsEuropean Journal of Human Genetics, 14
Pavel Seeman, I. Sakmaryová (2006)
High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2Clinical Genetics, 69
Chen-Chi Wu, Pei‐Jer Chen, Chuan-Jen Hsu (2005)
Specificity of SLC26A4 Mutations in the Pathogenesis of Inner Ear MalformationsAudiology and Neurotology, 10
M. Goldfeld, B. Glaser, E. Nassir, J. Gomori, E. Hazani, Nassir Bishara (2005)
CT of the ear in Pendred syndrome.Radiology, 235 2
H. Park, S. Shaukat, X. Liu, S. Hahn, S. Naz, M. Ghosh, H. Kim, S. Moon, S. Abe, K. Tukamoto, S. Riazuddin, M. Kabra, R. Erdenetungalag, J. Radnaabazar, Shaheen Khan, A. Pandya, S. Usami, W. Nance, E. Wilcox, A. Griffith (2003)
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafnessJournal of Medical Genetics, 40
(2009)
Mutations of KCNJ10 306
B. Coyle, W. Reardon, J. Herbrick, Lap-Chee Tsui, Eleanor Gausden, Jeffrey Lee, R. Coffey, A. Grueters, Ashley Grossman, P. Phelps, L. Luxon, P. Kendall‐Taylor, S. Scherer, R. Trembath (1998)
Molecular analysis of the PDS gene in Pendred syndrome.Human molecular genetics, 7 7
P. Dai, Yongyi Yuan, D. Huang, Xiu-hui Zhu, Fei Yu, D. Kang, Huijun Yuan, Bailin Wu, Dongyi Han, L. Wong (2008)
Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysisJournal of Translational Medicine, 6
B. Fraser (1964)
Association of congenital deafness with goitre (Pendred's syndrome): A study of 207 familiesAnnals of Human Genetics, 28
G. Borck, C. Roth, U. Martiné, G. Wildhardt, J. Pohlenz (2003)
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.The Journal of clinical endocrinology and metabolism, 88 6
C. Cremers, R. Admiraal, P. Huygen, Cuny Bolder, L. Everett, F. Joosten, E. Green, G. Camp, B. Otten (1998)
Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.International journal of pediatric otorhinolaryngology, 45 2
W. Reardon, C. Mahoney, R. Trembath, H. Jan, P. Phelps (2000)
Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.QJM : monthly journal of the Association of Physicians, 93 2
T. Yang, H. Vidarsson, Sandra Rodrigo-Blomqvist, S. Rosengren, S. Enerback, Richard Smith (2007)
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).American journal of human genetics, 80 6
H. Azaiez, T. Yang, S. Prasad, Jessica Sorensen, C. Nishimura, W. Kimberling, Richard Smith (2007)
Genotype–phenotype correlations for SLC26A4-related deafnessHuman Genetics, 122
P. Seeman, O. Bendová, D. Rašková, M. Malíková, Dániel Gróh, Z. Kabelka (2005)
Double Heterozygosity with Mutations Involving both the GJB2 and GJB6 Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech PopulationAnnals of Human Genetics, 69
L. Everett, B. Glaser, J. Beck, J. Idol, A. Buchs, M. Heyman, F. Adawi, E. Hazani, E. Nassir, A. Baxevanis, V. Sheffield, E. Green (1997)
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)Nature Genetics, 17
W. Reardon, R. Coffey, Tanzina Chowdhury, A. Grossman, H. Jan, Keith Britton, P. Kendall‐Taylor, R. Trembath (1999)
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndromeJournal of Medical Genetics, 36
K. Kahrizi, M. Mohseni, C. Nishimura, Niloofar Bazazzadegan, Stephanie Fischer, A. Dehghani, M. Sayfati, Maryam Taghdiri, P. Jamali, Richard Smith, F. Azizi, H. Najmabadi (2009)
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairmentEuropean Journal of Pediatrics, 168
P. Hauwe, L. Everett, P. Coucke, D. Scott, M. Kraft, C. Ris-Stalpers, Cuny Bolder, B. Otten, M. VijlderdeJ.J., N. Dietrich, A. Ramesh, Srikumari Srisailapathy, A. Parving, C. Cremers, P. Willems, Richard Smith, E. Green, G. Camp (1998)
Two frequent missense mutations in Pendred syndrome.Human molecular genetics, 7 7
T. Hutchin, T. Hutchin, N. Coy, H. Conlon, Elizabeth Telford, K. Bromelow, Diana Blaydon, Graham Taylor, E. Coghill, Susan Brown, R. Trembath, X. Liu, M. Bitner-Glindzicz, Robert Mueller (2005)
Assessment of the genetic causes of recessive childhood non‐syndromic deafness in the UK – implications for genetic testingClinical Genetics, 68
Chen-Chi Wu, Pei‐Jer Chen, Yu-Hsun Chiu, Ying‐Chang Lu, M. Wu, Chuan-Jen Hsu (2007)
Prospective Mutation Screening of Three Common Deafness Genes in a Large Taiwanese Cohort with Idiopathic Bilateral Sensorineural Hearing Impairment Reveals a Difference in the Results between Families from Hospitals and Those from Rehabilitation FacilitiesAudiology and Neurotology, 13
C. Madden, M. Halsted, J. Meinzen-Derr, D. Bardo, M. Boston, E. Arjmand, C. Nishimura, Tao Yang, C. Benton, Vijay Das, Richard Smith, D. Choo, J. Greinwald (2007)
The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct.Archives of otolaryngology--head & neck surgery, 133 2
S. Prasad, Karen Kölln, Robert Cucci, R. Trembath, G. Camp, Richard Smith (2004)
Pendred syndrome and DFNB4‐mutation screening of SLC26A4 by denaturing high‐performance liquid chromatography and the identification of eleven novel mutationsAmerican Journal of Medical Genetics Part A, 124A
N. Morton (1991)
Genetic Epidemiology of Hearing ImpairmentAnnals of the New York Academy of Sciences, 630
1896) Deaf-mutism and goitre
K. Banghova, Eva Taji, O. Cinek, D. Novotná, R. Pourová, J. Zapletalová, O. Hníková, J. Lebl (2008)
Pendred syndrome among patients with congenital hypothyroidism detected by neonatalscreening: identification of two novel PDS/SLC26A4 mutationsEuropean Journal of Pediatrics, 167
(2005)
GJB2 mutations
R. Snoeckx, P. Huygen, D. Feldmann, S. Marlin, F. Denoyelle, J. Waligóra, M. Mueller‐Malesińska, A. Pollak, R. Płoski, A. Murgia, E. Orzan, P. Castorina, U. Ambrosetti, E. Nowakowska-Szyrwińska, J. Bal, W. Wiszniewski, A. Janecke, D. Nekahm-Heis, P. Seeman, O. Bendová, M. Kenna, Anna Frangulov, H. Rehm, M. Tekin, A. İncesulu, H. Dahl, D. Sart, L. Jenkins, D. Lucas, M. Bitner-Glindzicz, K. Avraham, Z. Brownstein, I. Castillo, F. Moreno, N. Blin, M. Pfister, I. Sziklai, T. Tóth, P. Kelley, E. Cohn, L. Maldergem, P. Hilbert, A. Roux, M. Mondain, L. Hoefsloot, C. Cremers, T. Löppönen, H. Löppönen, A. Parving, K. Grønskov, I. Schrijver, Joseph Roberson, F. Gualandi, A. Martini, G. Lina-Granade, N. Pallares‐Ruiz, C. Correia, G. Fialho, K. Cryns, N. Hilgert, P. Heyning, C. Nishimura, Richard Smith, G. Camp (2005)
GJB2 mutations and degree of hearing loss: a multicenter study.American journal of human genetics, 77 6
I. Schrijver (2004)
Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound.The Journal of molecular diagnostics : JMD, 6 4
C. Campbell, Robert Cucci, S. Prasad, G. Green, J. Edeal, Chad Galer, L. Karniski, V. Sheffield, Richard Smith (2001)
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlationsHuman Mutation, 17
U. Napiontek, G. Borck, W. Müller-Forell, N. Pfarr, A. Bohnert, A. Keilmann, J. Pohlenz (2004)
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.The Journal of clinical endocrinology and metabolism, 89 11
E. Propst, S. Blaser, Tracy Stockley, R. Harrison, K. Gordon, B. Papsin (2006)
Temporal Bone Imaging in GJB2 DeafnessThe Laryngoscope, 116
A. Pera, S. Dossena, S. Rodighiero, Marta Gandía, G. Bottà, G. Meyer, F. Moreno, C. Nofziger, C. Hernández‐Chico, M. Paulmichl (2008)
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVAProceedings of the National Academy of Sciences, 105
V. Pendred (1896)
DEAF-MUTISM AND GOITRE.The Lancet, 148
S. Usami, S. Abe, M. Weston, H. Shinkawa, G. Camp, W. Kimberling (1999)
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutationsHuman Genetics, 104
(2005)
SLC26A4/PDS genotypephenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome
(2007)
Transcriptional control of SLC 26 A 4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct ( DFNB 4 )
Mutations in SLC26A4 cause Pendred syndrome (PS) – hearing loss with goitre – or DFNB4 – non‐syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD). We tested 303 unrelated Czech patients with early hearing loss (298 with NSHL and 5 with PS), all GJB2‐negative, for SLC26A4 mutations and evaluated their clinical and radiological phenotype. Among 115 available HRCT/MRI scans we detected three MD (2.6%), three Mondini‐like affections (2.6%), 16 EVA (13 bilateral – 19.2% and 15.6% respectively) and 61 EVA/MD‐negative scans (73.4%). We found mutation(s) in 26 patients (8.6%) and biallelic mutations in eight patients (2.7%) out of 303 tested. In 18 of 26 (69%) patients, no second mutation could be detected even using MLPA. The spectrum of SLC26A4 mutations in Czech patients is broad without any prevalent mutation. We detected 21 different mutations (four novel). The most frequent mutations were p.Val138Phe and p.Leu445Trp (18% and 8.9% of pathogenic alleles respectively). Among 13 patients with bilateral EVA, six patients (50%) carry biallelic mutations. In EVA ‐negative patients no biallelic mutations were found but 4.9% had monoallelic mutations. SLC26A4 mutations are present mostly in patients with EVA/MD and/or progressive HL and those with affected siblings.
Annals of Human Genetics – Wiley
Published: Jan 1, 2010
Keywords: ; ; ; ; ;
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