Genetics of hearing loss: Where are we standing now?

European Archives of Oto-Rhino-Laryngology

Volumn 269, Issue 7, 2012, Pages 1733-1745

  Mahboubi, Hossein ^a   Dwabe, Sami ^a   Fradkin, Matthew ^a   Kimonis, Virginia ^b   Djalilian, Hamid R ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Functional genes; Genetic screening; Non syndromic hearing loss; Syndromic hearing loss

Indexed keywords

ALPORT SYNDROME; ALSTROM SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BARTTER SYNDROME; BIOTINIDASE DEFICIENCY; BRANCHIOOTORENAL SYNDROME; CONDUCTION DEAFNESS; DIAGNOSTIC TEST; DISEASE CLASSIFICATION; FABRY DISEASE; GENE LOCUS; GENE MUTATION; GENETIC DATABASE; GENETIC SCREENING; HEARING LOSS; HUMAN; KEARNS SAYRE SYNDROME; MELAS SYNDROME; MERRF SYNDROME; NEUROFIBROMATOSIS; NON SYNDROMIC HEARING LOSS; PENDRED SYNDROME; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; REFSUM DISEASE; SCREENING TEST; STICKLER SYNDROME; SYNDROME; USHER SYNDROME; WAARDENBURG SYNDROME; WOLFRAM SYNDROME; X CHROMOSOME LINKED DISORDER;

ENVIRONMENTAL EXPOSURE; ENVIRONMENTAL ILLNESS; GENE-ENVIRONMENT INTERACTION; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEARING LOSS; HUMANS; INHERITANCE PATTERNS; PEDIGREE; SYNDROME;

EID: 84864914980     PISSN: 09374477     EISSN: 14344726     Source Type: Journal    
DOI: 10.1007/s00405-011-1910-6     Document Type: Article

References (53)

1. Hone SW, Smith RJ (2001) Genetics of hearing impairment. Semin Neonatol 6:531-541 (Pubitemid 34670096)
2. Wilde WR (1853) Practical observations on aural surgery and the nature and treatment of diseases of the ear. Churchill Livingstone, London
3. Politzer A (1882) Lehrbruch der Ohrenheilkunde, vol 2. Enke, Stuttgart
4. Marres HA (1998) Congenital abnormalities of the inner ear. In: Ludman H, Wright T (eds) Diseases of the ear. Arnold & Oxford University Press, Bath, pp 288-296
5. Toriello HV, Reardon W, Gorlin RJ (2004) Hereditary hearing loss and its syndromes. Oxford University Press, Oxford
6. Ouyang XM, Yan D, Yuan HJ, Pu D, Du LL, Han DY, Liu XZ (2009) The genetic bases for non-syndromic hearing loss among Chinese. J Hum Genet 54:131-140
7. Kochhar A, Hildebrand MS, Smith RJ (2007) Clinical aspects of hereditary hearing loss. Genet Med 9:393-408 (Pubitemid 47224886)
8. Morton NE (1991) Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630:16-31
9. Morton CC, Nance WE (2006) Newborn hearing screening-a silent revolution. N Engl J Med 354:2151-2164 (Pubitemid 43736615)
10. Mason JA, Herrmann KR (1998) Universal infant hearing screening by automated auditory brainstem response measurement. Pediatrics 101:221-228 (Pubitemid 28076654)
11. Grundfast KM, Siparsky N, Chuong D (2000) Genetics and molecular biology of deafness. Update. Otolaryngol Clin North Am 33:1367-1394 (Pubitemid 32060515)
12. Smith RJ, Hone S (2003) Genetic screening for deafness. Pediatr Clin North Am 50:315-329 (Pubitemid 36666559)
13. Petersen MB (2002) Non-syndromic autosomal-dominant deafness. Clin Genet 62:1-13 (Pubitemid 36372689)
14. Nance WE (2003) The genetics of deafness. Ment Retard Dev Disabil Res Rev 9:109-119 (Pubitemid 36666407)
15. Baldwin CT, Hoth CF, Amos JA, da Silva EO, Milunsky A (1992) An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355:637-638
16. DeStefano AL, Cupples LA, Arnos KS et al (1998) Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet 102:499-506 (Pubitemid 28282576)
17. Heimler A, Lieber E (1986) Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. Am J Med Genet 25:15-27 (Pubitemid 16044579)
18. Ruf RG, Xu PX, Silvius D, Otto EA et al (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1- DNA complexes. Proc Natl Acad Sci USA 101:8090-8095 (Pubitemid 38698059)
19. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M et al (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411-422 (Pubitemid 27518389)
20. Tekin M, Arnos KS, Pandya A (2001) Advances in hereditary deafness. Lancet 358:1082-1090 (Pubitemid 32925135)
21. Phelps PD, Coffey RA, Trembath RC, Luxon LM et al (1998) Radiological malformations of the ear in Pendred syndrome. Clin Radiol 53:268-273 (Pubitemid 28171170)
22. Kimberling WJ, Möller CG, Davenport SL, Lund G, Grissom TJ, Priluck I et al (1989) Usher syndrome: clinical findings and gene localization studies. Laryngoscope 99:66-72 (Pubitemid 19036972)
23. Rosenberg T, Haim M, Hauch AM, Parving A (1997) The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet 51:314-321 (Pubitemid 27248263)
24. Petersen MB, Wang Q, Willems PJ (2008) Sex-linked deafness. Clin Genet 73:14-23 (Pubitemid 350263517)
25. Govan JA (1983) Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes? Br J Ophthalmol 67:493-503 (Pubitemid 13028249)
26. Hutchin TP, Cortopassi GA (2000) Mitochondrial defects and hearing loss. Cell Mol Life Sci 57:1927-1937 (Pubitemid 32102587)
27. Jacobs HT, Hutchin TP, Kappi T et al (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet 13:26-33
28. Hilgert N, Smith RJ, Van Camp G (2009) Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 681:189-196
29. Van Laer L, McGuirt WT, Yang T, Smith RJH, Van Camp G (1999) Autosomal dominant nonsyndromic hearing impairment. Am J Med Genet 89:167-174 (Pubitemid 30120748)
30. Finsterer J, Fellinger J (2005) Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol 69:621-647 (Pubitemid 40590051)
31. Hofmann S, Philbrook C, Gerbitz KD, Bauer MF (2003) Wolfram syndrome: structural and functional analyses of mutant and wildtype Wolframin, the WFS1 gene product. Hum Mol Genet 12:2003-2012 (Pubitemid 37038809)
32. Topsakal V, Pennings RJ, te Brinke H, Hamel B, Huygen PL, Kremer H, Cremers CW (2005) Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S). Otol Neurotol 26:52-58 (Pubitemid 40130209)
33. Van Camp G, Coucke PJ, Akita J, Fransen E, Abe S, De Leenheer EM, Huygen PL, Cremers CW, Usami S (2002) A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. Hum Mutat 20:15-19 (Pubitemid 34747712)
34. Pfister M, Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O et al (2004) A genotype-phenotype correlation with gendereffect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem 14:369-376 (Pubitemid 39179206)
35. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabédian EN, Petit C (1999) Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 353:1298-1303 (Pubitemid 29178779)
36. Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE et al (2001) Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype- phenotype correlations. Hum Mutat 17:403-411 (Pubitemid 32381675)
37. Guan MX (2004) Molecular pathogenetic mechanism of maternally inherited deafness. Ann N Y Acad Sci 1011:259-271
38. Kokotas H, Petersen MB, Willems PJ (2007) Mitochondrial deafness. Clin Genet 71:379-391 (Pubitemid 46730646)
39. Xing G, Chen Z, Cao X (2007) Mitochondrial rRNA and tRNA and hearing function. Cell Res 17:227-239 (Pubitemid 46438720)
40. Fischel-Ghodsian N, Prezant TR, Chaltraw WE, Wendt KA, Nelson RA, Arnos KS, Falk RE (1997) Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity. Am J Otolaryngol 18:173-178 (Pubitemid 27215295)
41. Hilgert N, Smith RJ, Van Camp G (2009) Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med 9:546-564
42. Stockley TL, Mendoza-Londono R, Propst EJ, Sodhi S, Dupuis L, Papsin BC (2009) A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. Am J Med Genet A 149A:322-327
43. Bhuiyan ZA, Momenah TS, Amin AS et al (2008) An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. Prog Biophys Mol Biol 98:319-327
44. Esmaeili M, Bonyadi M, Nejadkazem M (2007) Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/ del(GJB6-D13S1830)) in the DFNB1-related deafness. Int J Pediatr Otorhinolaryngol 71:869-873 (Pubitemid 46670348)
45. Bu X, Shohat M, Jaber L, Rotter JI (1993) A form of sensorineural deafness is determined by a mitochondrial and an autosomal locus: evidence from pedigree segregation analysis. Genet Epidemiol 10:3-15 (Pubitemid 23110594)
46. Kothiyal P, Cox S, Ebert J, Husami A, Kenna MA, Greinwald JH, Aronow BJ, Rehm HL (2010) High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. BMC Biotechnol 10:10
47. Hildebrand MS, DeLuca AP, Taylor KR, Hoskinson DP, Hur IA, Tack D, McMordie SJ, Huygen PL, Casavant TL, Smith RJ (2009) A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss. Laryngoscope 119:2211-2215
48. Rehm HL (2005) A genetic approach to the child with sensorineural hearing loss. Semin Perinatol 29:173-181 (Pubitemid 40909872)
49. Chan DK, Schrijver I, Chang KW (2011) Diagnostic yield in the workup of congenital sensorineural hearing loss is dependent on patient ethnicity. Otol Neurotol 32:81-87
50. Matsunaga T (2009) Value of genetic testing in the otological approach for sensorineural hearing loss. Keio J Med 58:216-222
51. Meyer NC, Nishimura CJ, McMordie S, Smith RJ (2007) Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree. Clin Genet 72:130-137 (Pubitemid 47262083)
52. de Heer AM, Schraders M, Oostrik J, Hoefsloot L, Huygen PL, Cremers CW (2011) Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family. Ann Otol Rhinol Laryngol 120:243-248
53. Hildebrand MS, Newton SS, Gubbels SP, Sheffield AM, Kochhar A, de Silva MG, Dahl HH, Rose SD, Behlke MA, Smith RJ (2008) Advances in molecular and cellular therapies for hearing loss. Mol Ther 16:224-236 (Pubitemid 351168030)