SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

Cellular Physiology and Biochemistry

Volumn 28, Issue 3, 2011, Pages 545-552

  Ito, Taku ^a   Choi, Byung Yoon ^a   King, Kelly A ^a   Zalewski, Christopher K ^a   Muskett, Julie ^a   Chattaraj, Parna ^a   Shawker, Thomas ^b   Reynolds, James C ^b   Butman, John A ^b   Brewer, Carmen C ^a   Wangemann, Philine ^c   Alper, Seth L ^d   Griffith, Andrew J ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c KANSAS STATE UNIVERSITY   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Deafness; Genotype phenotype correlation; Hearing; Inner ear; Pendred syndrome; SLC26A4

Indexed keywords

PENDRIN;

AUTOSOMAL RECESSIVE DISORDER; COMPUTER ASSISTED TOMOGRAPHY; ENDOLYMPHATIC SAC; ENLARGEMENT OF THE VESTIBULAR AQUEDUCT; FAMILY STUDY; GENOTYPE PHENOTYPE CORRELATION; GOITER; HEARING IMPAIRMENT; HUMAN; INNER EAR; INNER EAR MALFORMATION; PATHOGENESIS; PENDRED SYNDROME; PERCEPTION DEAFNESS; PRIORITY JOURNAL; REVIEW; THYROID GLAND; VESTIBULE AQUEDUCT;

EID: 82255196403     PISSN: 10158987     EISSN: 14219778     Source Type: Journal    
DOI: 10.1159/000335119     Document Type: Review

References (57)

1. Fortnum H, Summerfield A, Marshall D, Davis A, Bamford J: Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: Questionnaire based ascertainment study. BMJ 2001;323:536-540.
2. Morton N: Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991;630:16-31.
3. Smith R, Bale JJ, White K: Sensorineural hearing loss in children. Lancet 2005;365:879-890. (Pubitemid 40332167)
4. Van Camp G, Willems P, Smith R: Nonsyndromic hearing impairment: Unparalleled heterogeneity. Am J Hum Genet 1997;60:758-764. (Pubitemid 27146483)
5. Gorlin RJ, Toriello HV, Cohen MM: Hereditary hearing loss and its syndromes. New York, Oxford University Press, 1995
6. Friedman TB, Griffith AJ: Human nonsyndromic sensorineural deafness. Annu Rev Genomics Hum Genet 2003;4:341-402. (Pubitemid 37392928)
7. Pendred V: Deaf-mutism and goitre. Lancet II 1896:532.
8. Brain WR: Heredity in simple goitre. Q J Med 1927;20:303-319.
9. Morgans ME, Trotter WR: Association of congenital deafness with goitre; the nature of the thyroid defect. Lancet 1958;1:607-609.
10. Fraser GR, Morgans ME, Trotter WR: The syndrome of sporadic goitre and congenital deafness. Q J Med 1960;29:279-295.
11. Fraser GR: Association of congenital deafness with goitre (Pendred's syndrome) a study of 207 families. Ann Hum Genet 1965;28:201-249.
12. Jensen J: Tomography of the inner ear in deaf children. Radiological demonstration of two cases with the Mondini malformation. J Laryngol Otol 1967;81:27-35.
13. Illum P, Kiaer HW, Hvidberg-Hansen J, Sondergaard G: Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter. Arch Otolaryngol 1972;96:297-304.
14. Hvidberg-Hansen J, Jorgensen MB: The inner ear in Pendred's syndrome. Acta Otolaryngol 1968;66:129-135.
15. Johnsen T, Jorgensen MB, Johnsen S: Mondini cochlea in Pendred's syndrome. A histological study. Acta Otolaryngol 1986;102:239-247. (Pubitemid 17202520)
16. Johnsen T, Larsen C, Friis J, Hougaard-Jensen F: Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients. J Laryngol Otol 1987;101:1187-1192. (Pubitemid 18049468)
17. Everett L, Glaser B, Beck J, Idol J, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis A, Sheffield V, Green E: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411-422. (Pubitemid 27518389)
18. Baldwin CT, Weiss S, Farrer LA, De Stefano AL, Adair R, Franklyn B, Kidd KK, Korostishevsky M, Bonne-Tamir B: Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum Mol Genet 1995;4:1637-1642.
19. Li X, Everett L, Lalwani A, Desmukh D, Friedman T, Green E, Wilcox E: A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998;18:215-217.
20. Park H, Shaukat S, Liu X, Hahn S, Naz S, Ghosh M, Kim H, Moon S, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami S, Nance W, Wilcox E, Griffith A: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness. J Med Genet 2003;40:242-248. (Pubitemid 36506436)
21. Dossena S, Rodighiero S, Vezzoli V, Nofziger C, Salvioni E, Boccazzi M, Grabmayer E, Botta G, Meyer G, Fugazzola L, Beck-Peccoz P, Paulmichl M: Functional characterization of wildtype and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. J Mol Endocrinol 2009;43:93-103.
22. Scott D, Wang R, Kreman T, Sheffield V, Karniski L: The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 1999;21:440-443. (Pubitemid 29159585)
23. Wangemann P, Nakaya K, Wu T, Maganti R, Itza E, Sanneman J, Harbidge D, Billings S, Marcus D: Loss of cochlear HCO3-secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. Am J Physiol Renal Physiol 2007;292:F1345-1353. (Pubitemid 46701861)
24. Choi BY, Kim HM, Ito T, Lee KY, Li X, Monahan K, Wen Y, Wilson E, Kurima K, Saunders TL, Petralia RS, Wangemann P, Friedman TB, Griffith AJ: Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. J Clin Invest 2011; in press.
25. Griffith AJ, Wangemann P: Hearing loss associated with enlargement of the vestibular aqueduct: Mechanistic insights from clinical phenotypes, genotypes, and mouse models. Hear Res 2011; Epub Jun 6.
26. Wangemann P: The role of pendrin in the development of the murine inner ear. Cell Physiol Biochem 2011;28:527-534.
27. Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, Kendall-Taylor P, Graham JM, Cadge BC, Stephens SG, Pembrey ME, Reardon W: Radiological malformations of the ear in pendred syndrome. Clin Radiol 1998;53:268-273. (Pubitemid 28171170)
28. Valvassori G, Clemis J: The large vestibular aqueduct syndrome. Laryngoscope 1978;88:723-728.
29. Griffith AJ, Arts A, Downs C, Innis JW, Shepard NT, Sheldon S, Gebarski SS: Familial large vestibular aqueduct syndrome. Laryngoscope 1996;106:960-965. (Pubitemid 26287236)
30. Abe S, Usami S, Shinkawa H: Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct. Ann Otol Rhinol Laryngol 1997;106:1063-1069.
31. Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER: A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998;18:215-217.
32. Usami S, Abe S, Weston M, Shinkawa H, Van Camp G, Kimberling W: Nonsyndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 1999;104:188-192. (Pubitemid 29123612)
33. Scott D, Wang R, Kreman T, Andrews M, McDonald J, Bishop J, Smith R, Karniski L, Sheffield V: Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and nonsyndromic hearing loss (DFNB4). Hum Mol Genet 2000;9:1709-1715. (Pubitemid 30427008)
34. 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;11:916-922. (Pubitemid 38072157)
35. Pryor S, Madeo A, Reynolds J, Sarlis N, Arnos K, Nance W, Yang Y, Zalewski C, Brewer C, Butman J, Griffith A: 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;42:159-165. (Pubitemid 40204371)
36. Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot M, David A, Calais C, Drouin-Garraud V, Obstoy M, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabédian E, Couderc R, Marlin S, Denoyelle F: SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet 2006;14:773-779. (Pubitemid 43797276)
37. Campbell C, Cucci R, Prasad S, Green G, Edeal J, Galer C, Karniski L, Sheffield V, Smith R: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotypephenotype correlations. Hum Mutat 2001;17:403-411. (Pubitemid 32381675)
38. Chen A, Francis M, Ni L, Cremers CW, Kimberling WJ, Sato Y, Phelps PD, Bellman SC, Wagner MJ, Pembrey M, et al.: Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet 1995;58:365-370.
39. Madden C, Halsted MJ, Hopkin RJ, Choo DI, Benton C, Greinwald JH, Jr.: Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope 2003;113:2035-2041. (Pubitemid 37409699)
40. Berrettini S, Neri E, Forli F, Panconi M, Massimetti M, Ravecca F, Sellari-Franceschini S, Bartolozzi C: Large vestibular aqueduct in distal renal tubular acidosis. High-resolution MR in three cases. Acta Radiol 2001;42:320-322. (Pubitemid 33655064)
41. Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat 2001;18:548.
42. Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ: 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.
43. Coyle B, Reardon W, Herbrick J, Tsui L, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps P, Luxon L, Kendall-Taylor P, Scherer S, Trembath R: Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet 1998;7:1105-1112.
44. Choi BY, Madeo AC, King KA, Zalewski CK, Pryor SP, Muskett JA, Nance WE, Butman JA, Brewer CC, Griffith AJ: Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. J Med Genet 2009;46:856-861.
45. Madden C, Halsted M, Meinzen-Derr J, Bardo D, Boston M, Arjmand E, Nishimura C, Yang T, Benton C, Das V, Smith R, Choo D, Greinwald J: The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct. Arch Otolaryngol Head Neck Surg 2007;133:162-168. (Pubitemid 46294118)
46. Boston M, Halsted M, Meinzen-Derr J, Bean J, Vijayasekaran S, Arjmand E, Choo D, Benton C, Greinwald J: The large vestibular aqueduct: A new definition based on audiologic and computed tomography correlation. Otolaryngol Head Neck Surg 2007;136:972-977. (Pubitemid 46843359)
47. Madeo AC, Manichaikul A, Reynolds JC, Sarlis NJ, Pryor SP, Shawker TH, Griffith AJ: Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. Arch Otolaryngol Head Neck Surg 2009;135:670-676.
48. Xing M, Tokumaru Y, Wu G, Westra WB, Ladenson PW, Sidransky D: Hypermethylation of the Pendred syndrome gene SLC26A4 is an early event in thyroid tumorigenesis. Cancer Res 2003;63:2312-2315. (Pubitemid 36538642)
49. Morton C, Nance W: Newborn hearing screening-a silent revolution. N Engl J Med 2006;354:2151-2164. (Pubitemid 43736615)
50. Pryor SP, Demmler GJ, Madeo AC, Yang Y, Zalewski CK, Brewer CC, Butman JA, Fowler KB, Griffith AJ: Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts. Arch Otolaryngol Head Neck Surg 2005;131:388-392. (Pubitemid 40638140)
51. 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;80:1055-1063. (Pubitemid 47579342)
52. Yang T, Gurrola JG, 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ: Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet 2009;84:651-657.
53. Mercer S, Mutton P, Dahl HH: Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis. Genet Test Mol Biomarkers 2011;15:365-368.
54. Jonard L, Niasme-Grare M, Bonnet C, Feldmann D, Rouillon I, Loundon N, Calais C, Catros H, David A, Dollfus H, Drouin-Garraud V, Duriez F, Eliot MM, Fellmann F, Francannet C, Gilbert-Dussardier B, Gohler C, Goizet C, Journel H, Mom T, Thuillier-Obstoy MF, Couderc R, Garabedian EN, Denoyelle F, Marlin S: Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol 2010;74:1049-1053.
55. Wu CC, Lu YC, Chen PJ, Yeh PL, Su YN, Hwu WL, Hsu CJ: 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.
56. Yang T, Smith RJ: The c.-103T〉C variant in the 5'-UTR of SLC26A4 gene: A pathogenic mutation or coincidental polymorphism? Hum Mutat 2009;30:1469-1470.
57. Choi BY, Alper SL, Griffith AJ: Response to: The c.-103T〉C variant in the 5'-UTR of SLC26A4 gene: A pathogenic mutation or coincidental polymorphism? Hum Mutat 2009;30:1471.