Etiology of syndromic and nonsyndromic sensorineural hearing loss

Otolaryngologic Clinics of North America

Volumn 35, Issue 4, 2002, Pages 891-908

  Gürtler, Nicolas ^a,b   Lalwani, Anil K ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b HNO Universitatsklinik   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

ALPORT SYNDROME; BRANCHIOOTORENAL SYNDROME; GENE FUNCTION; GENETICS; HAIR CELL; HOMEOSTASIS; HUMAN; LONG QT SYNDROME; MANDIBULOFACIAL DYSOSTOSIS; NEUROFIBROMATOSIS; NORRIE DISEASE; PENDRED SYNDROME; PERCEPTION DEAFNESS; REVIEW; USHER SYNDROME; WAARDENBURG SYNDROME;

CHILD; HEARING LOSS, SENSORINEURAL; HUMANS; SYNDROME;

EID: 0036704021     PISSN: 00306665     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0030-6665(02)00053-1     Document Type: Review

References (105)

1. Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991;630:16-31.
2. Marazita ML, Ploughman LM, Rawlings B, et al. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 1993;46:486-91.
3. Gorlin RJ, Toriello HV, Cohen MM. Hereditary Hearing Loss and Its Syndromes. Oxford: Oxford University Press; 1995.
4. Batsakis JG, Nishiyama RH. Deafness with sporadic goiter. Pendred's syndrome. Arch. Otolaryng 1962;76:401-6.
5. Tseng CJ, Lalwani AK. Cracking the auditory genetic code: Part II. Syndromic hereditary hearing impairment. Am J Otol 2000;21:437-51.
6. Johnsen T, Larsen C, Friis J, et al. Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients. J Laryngol Otol 1987;101:1187-92.
7. Phelps PD, Coffey RA, Trembath RC, et al. Radiological malformations of the ear in Pendred syndrome. Clin Radiol 1998;53:268-73.
8. Everett LA, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997; 17:411-22.
9. Wilcox ER, Everett LA, Li XC, et al. The PDS gene, Pendred syndrome and nonsyndromic deafness DFNB4. Adv Otorhinolaryngol 2000;56:145-51.
10. Campbell C, Cucci RA, Prasad S, et al. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 2001;17:403-11.
11. Everett LA, Morsli H, Wu DK, et al. Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci USA 1999;96:9727-32.
12. Everett LA, Belyantseva IA, Noben-Trauth K, et al. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 2001;10:153-61.
13. Ishikiriyama S, Tonoki H, Shibuya Y, et al. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). Am J Med Genet 1989;33:505-7.
14. Tassabehji M, Read AP, Newton VE, et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992;355:635-6.
15. Baldwin CT, Hoth CF, Amos JA, et al. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 1992;355:637-8.
16. Zlotogora J, Lerer I, Bar-David S, et al. Homozygosity for Waardenburg syndrome. Am J Hum Genet 1995;56:1173-8.
17. Tassabehji M, Newton VE, Read AP. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 1994;8:251-5.
18. Touraine RL, Attie-Bitach T, Manceau E, et al. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet 2000;66:1496-503.
19. Puffenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994;79:1257-66.
20. Edery P, Attie T, Amiel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 1996;12:442-4.
21. Pingault V, Bondurand N, Kuhlbrodt K, et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 1998; 18:171-3.
22. Gariepy CE, Cass DT, Yanagisawa M. Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color. Proc Natl Acad Sci USA 1996;93:867-72.
23. Bondurand N, Pingault V, Goerich DE, et al. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet 2000;9:1907-17.
24. Self T, Mahony M, Fleming J, et al. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development 1998;125:557-66.
25. Barker DF, Hostikka SL, Zhou J, et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990;248:1224-7.
26. Mochizuki T, Lemmink HH, Mariyama M, et al. Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 1994;8:77-81.
27. Lemmink HH, Mochizuki T, van den Heuvel LP, et al. Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 1994;3:1269-73.
28. Jefferson JA, Lemmink HH, Hughes AE, et al. Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). Nephrol Dial Transplant 1997; 12:1595-9.
29. Zheng K, Thorner PS, Marrano P, et al. Canine X chromosome-linked hereditary nephritis: A genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha 5 chain of collagen type IV. Proc Natl Acad Sci USA 1994;91:3989-93.
30. Thorner PS, Zheng K, Kalluri R, et al. Coordinate gene expression of the alpha3, alpha4, and alpha5 chains of collagen type IV. Evidence from a canine model of X-linked nephritis with a COL4A5 gene mutation. J Biol Chem 1996;271:13821-8.
31. Cosgrove D, Samuelson G, Pinnt J. Immunohistochemical localization of basement membrane collagens and associated proteins in the murine cochlea. Hear Res 1996;97:54-65.
32. Cosgrove D, Samuelson G, Meehan DT, et al. Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome. Hear Res 1998;121:8498.
33. Fraser FC, Sproule JR, Halal F. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet 1980;7:341-9.
34. Abdelhak S, Kalatzis V, Heilig R, et al. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 1997;15:157-64.
35. Xu PX, Adams J, Peters H, et al. Eyal-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet 1999;23:113-7.
36. Rickard S, Boxer M, Trompeter R, et al. Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. J Med Genet 2000;37:623-7.
37. Stratakis CA, Lin JP, Rennert OM. Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3). Am J Med Genet 1998;79:209-14.
38. Berger W, Meindl A, van de Pol TJ, et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet 1992;2:84.
39. Chen ZY, Sims KB, Coleman M, et al. Characterization of a YAC containing part or all of the Norrie disease locus. Hum Mol Genet 1992;1:161-4 .
40. Meitinger T, Meindl A, Bork P, et al. Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. Nat Genet 1993;5:376-80.
41. Meindl A, Berger W, Meitinger T, et al. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nat Genet 1992;2:139-43.
42. Trofatter JA, MacCollin MM, Rutter JL, et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 1993;75:826.
43. Rouleau GA, Merel P, Lutchman M, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 1993;363:515-21.
44. Kluwe L, Friedrich RE, Hagel C, et al. Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. J Invest Dermatol 2000; 114:1017-21.
45. Neyroud N, Tesson F, Denjoy I, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 1997; 15:186-9.
46. Tyson J, Tranebjaerg L, Bellman S, et al. IsK and KvLQT1: Mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet. 1997 Nov;6:2179-85.
47. Charpentier F, Merot J, Riochet D, et al. Adult KCNE1-knockout mice exhibit a mild cardiac cellular phenotype. Biochem Biophys Res Commun 1998;251:806-10.
48. Group TCSC. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. Nat Genet 1996;12:130-6.
49. Edwards SJ, Gladwin AJ, Dixon MJ. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet 1997;60:515-24.
50. Dixon J, Hovanes K, Shiang R, et al. Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcofl provide further evidence for a potential function for the gene and its human homologue, TCOF1. Hum Mol Genet 1997;6:727-37.
51. Williams CJ, Ganguly A, Considine E, et al. A-2G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am J Med Genet 1996;63:461-7.
52. Vikkula M, Mariman EC, Lui VC, et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 1995;80:431-7.
53. Richards AJ, Yates JR, Williams R, et al. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet 1996;5:1339-43.
54. McGuirt WT, Prasad SD, Griffith AJ, et al. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet 1999;23:413-9.
55. Rabionet R, Gasparini P, Estivill X. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat 2000;16:190-202.
56. Rozental R, Giaume C, Spray DC. Gap junctions in the nervous system. Brain Res Brain Res Rev 2000;32:11-5.
57. Kikuchi T, Kimura RS, Paul DL, et al. Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis. Anat Embryol (Berl) 1995;191:101-18.
58. Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness. Nature 1997;387:80-3.
59. Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997;6:2173-7.
60. Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394-8.
61. Denoyelle F, Lina-Granade G, Plauchu H, et al. Connexin 26 gene linked to a dominant deafness. Nature 1998;393:319-20.
62. Antoniadi T, Gronskov K, Sand A, et al. Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat 2000;16:7-12.
63. Lench N, Houseman M, Newton V, et al. Connexin-26 mutations in sporadic nonsyndromal sensorineural deafness. Lancet 1998;351:415.
64. Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998;62:792-9.
65. Zelante L, Gasparini P, Estivill X, et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6:1605-9.
66. Van Laer L, Coucke P, Mueller RF, et al. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 2001;38::515-8.
67. Kudo T, Ikeda K, Kure S, et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet 2000;90:141-5.
68. Morell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500-5.
69. Xia JH, Liu CY, Tang BS, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 1998;20:370-3.
70. Grifa A, Wagner CA, D'Ambrosio L, et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 1999;23:16-8.
71. Kharkovets T, Hardelin JP, Safieddine S, et al. KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway. Proc Natl Acad Sci USA 2000;97:4333-8.
72. Robbins J. KCNQ potassium channels: Physiology, pathophysiology, and pharmacology. Pharmacol Ther 2001;90:1-19.
73. Kubisch C, Schroeder BC, Friedrich T, et al. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 1999;96:437-46.
74. Scott DA, Wang R, Kreman TM, et al. The Pendred syndrome gene encodes a chlorideiodide transport protein. Nat Genet 1999;21:440-3.
75. Yasunaga S, Grati M, Cohen-Salmon M, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 1999;21:363-9.
76. Wilcox ER, Burton QL, Naz S, et al. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell 2001;104:165-72.
77. Friedman TB, Sellers JR, Avraham KB. Unconventional myosins and the genetics of hearing loss. Am J Med Genet 1999;89:147-57.
78. Melchionda S, Ahituv N, Bisceglia L, et al. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet 2001;69:635-40.
79. Liu XZ, Walsh J, Tamagawa Y, et al. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 1997;17:268-9.
80. Wang A, Liang Y, Fridell RA, et al. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 1998;280:1447-51.
81. Weil D, Kussel P, Blanchard S, et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 1997;16:191-3.
82. Lalwani AK, Goldstein JA, Kelley MJ, et al. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 2000;67:1121-8.
83. Bork JM, Peters LM, Riazuddin S, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet 2001;68:26-37.
84. Gumbiner BM. Cell adhesion: The molecular basis of tissue architecture and morphogenesis. Cell 1996;84:345-57.
85. Di Palma F, Holme RH, Bryda EC, et al. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat Genet 2001;27:103-7.
86. Verpy E, Masmoudi S, Zwaenepoel I, et al. Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. Nat Genet 2001;29:345-9.
87. Wayne S, Robertson NG, DeClau F, et al. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet 2001;10:195-200.
88. Vahava O, Morell R, Lynch ED, et al. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 1998;279:1950-4.
89. de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995;267:685-8.
90. Lynch ED, Lee MK, Morrow JE, et al. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 1997;278:1315-8.
91. Mustapha M, Weil D, Chardenoux S, et al. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet 1999;8:409-12.
92. Verhoeven K, Van Laer L, Kirschhofer K, et al. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 1998;19:60-2.
93. Legan PK, Lukashkina VA, Goodyear RJ, et al. A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback. Neuron 2000;28:273-85.
94. Bespalova IN, Van Camp G, Bom SJ, et al. Mutations in the Wolfram syndrome 1 gene (WFS 1) are a common cause of Iow frequency sensorineural hearing loss. Hum Mol Genet 2001;10:2501-8.
95. Khanim F, Kirk J, Latif F, et al. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat 2001;17:357-67.
96. Scott HS, Kudoh J, Wattenhofer M, et al. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet 2001;27:59-63.
97. Van Laer L, Huizing EH, Verstreken M, et al. Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet 1998;20:194-7.
98. Thompson DA, Weigel RJ. Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas. Eur J Biochem 1998;252:169-77.
99. Robertson NG, Skvorak AB, Yin Y, et al. Mapping and characterization of a novel cochlear gene in human and in mouse: A positional candidate gene for a deafness disorder, DFNA9. Genomics 1997;46:345-54.
100. Fischel-Ghodsian N. Mitochondrial deafness mutations reviewed. Hum Mutat 1999;13:261-70.
101. el-Schahawi M, Lopez de Munain A, Sarrazin AM, et al. Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: Evidence of heteroplasmy. Neurology 1997;48:453-6.
102. Estivill X, Govea N, Barcelo E, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 1998;62:27-35.
103. Bacino C, Prezant TR, Bu X, et al. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics 1995;5:165-72.
104. Sue CM, Tanji K, Hadjigeorgiou G, et al. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology 1999;52:1905-8.
105. Sevior KB, Hatamochi A, Stewart IA, et al. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet 1998;75:179-85.