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European Archives of Oto-Rhino-Laryngology
Erschienen in: European Archives of Oto-Rhino-Laryngology 7/2012

01.07.2012 | Review Article

Genetics of hearing loss: where are we standing now?

verfasst von: Hossein Mahboubi, Sami Dwabe, Matthew Fradkin, Virginia Kimonis, Hamid R. Djalilian

Erschienen in: European Archives of Oto-Rhino-Laryngology | Ausgabe 7/2012

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Abstract

Hearing loss (HL) is the most common sensory impairment and is caused by a broad range of inherited to environmental causes. Inherited HL consists 50–60% of all HL cases. The inherited form of HL is further classified to different categories. More than 300 syndromes and 40 genes have been identified to result in different levels of HL. Although several diagnostic or screening tests have been developed, yet there are controversies around their use.
Literatur
1.
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 54:131–140PubMedCrossRef
7.
Kochhar A, Hildebrand MS, Smith RJ (2007) Clinical aspects of hereditary hearing loss. Genet Med 9:393–408PubMedCrossRef
8.
9.
Morton CC, Nance WE (2006) Newborn hearing screening—a silent revolution. N Engl J Med 354:2151–2164PubMedCrossRef
10.
Mason JA, Herrmann KR (1998) Universal infant hearing screening by automated auditory brainstem response measurement. Pediatrics 101:221–228PubMedCrossRef
11.
Grundfast KM, Siparsky N, Chuong D (2000) Genetics and molecular biology of deafness. Update. Otolaryngol Clin North Am 33:1367–1394PubMedCrossRef
12.
13.
14.
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 355:637–638PubMedCrossRef
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 102:499–506PubMedCrossRef
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 25:15–27PubMedCrossRef
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 101:8090–8095PubMedCrossRef
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 17:411–422PubMedCrossRef
20.
21.
Phelps PD, Coffey RA, Trembath RC, Luxon LM et al (1998) Radiological malformations of the ear in Pendred syndrome. Clin Radiol 53:268–273PubMedCrossRef
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 99:66–72PubMedCrossRef
23.
Rosenberg T, Haim M, Hauch AM, Parving A (1997) The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet 51:314–321PubMedCrossRef
24.
25.
Govan JA (1983) Ocular manifestations of Alport’s syndrome: a hereditary disorder of basement membranes? Br J Ophthalmol 67:493–503PubMedCrossRef
26.
Hutchin TP, Cortopassi GA (2000) Mitochondrial defects and hearing loss. Cell Mol Life Sci 57:1927–1937PubMedCrossRef
27.
Jacobs HT, Hutchin TP, Kappi T et al (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet 13:26–33PubMedCrossRef
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 681:189–196PubMedCrossRef
29.
Van Laer L, McGuirt WT, Yang T, Smith RJH, Van Camp G (1999) Autosomal dominant nonsyndromic hearing impairment. Am J Med Genet 89:167–174PubMedCrossRef
30.
Finsterer J, Fellinger J (2005) Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol 69:621–647PubMedCrossRef
31.
Hofmann S, Philbrook C, Gerbitz KD, Bauer MF (2003) Wolfram syndrome: structural and functional analyses of mutant and wild-type Wolframin, the WFS1 gene product. Hum Mol Genet 12:2003–2012PubMedCrossRef
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 26:52–58PubMedCrossRef
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 20:15–19PubMedCrossRef
34.
Pfister M, Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O et al (2004) A genotype–phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem 14:369–376PubMedCrossRef
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 353:1298–1303PubMedCrossRef
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 17:403–411PubMedCrossRef
37.
Guan MX (2004) Molecular pathogenetic mechanism of maternally inherited deafness. Ann N Y Acad Sci 1011:259–271PubMedCrossRef
38.
39.
Xing G, Chen Z, Cao X (2007) Mitochondrial rRNA and tRNA and hearing function. Cell Res 17:227–239PubMed
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 18:173–178PubMedCrossRef
41.
Hilgert N, Smith RJ, Van Camp G (2009) Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med 9:546–564PubMedCrossRef
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:322–327PubMedCrossRef
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 98:319–327PubMedCrossRef
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 71:869–873PubMedCrossRef
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 10:3–15PubMedCrossRef
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 10:10PubMedCrossRef
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 119:2211–2215PubMedCrossRef
48.
Rehm HL (2005) A genetic approach to the child with sensorineural hearing loss. Semin Perinatol 29:173–181PubMedCrossRef
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 32:81–87PubMedCrossRef
50.
Matsunaga T (2009) Value of genetic testing in the otological approach for sensorineural hearing loss. Keio J Med 58:216–222PubMedCrossRef
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 72:130–137PubMedCrossRef
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 120:243–248PubMed
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 16:224–236PubMedCrossRef
Metadaten
Titel
Genetics of hearing loss: where are we standing now?
verfasst von
Hossein Mahboubi
Sami Dwabe
Matthew Fradkin
Virginia Kimonis
Hamid R. Djalilian
Publikationsdatum
01.07.2012
Verlag
Springer-Verlag
Erschienen in
European Archives of Oto-Rhino-Laryngology / Ausgabe 7/2012
Print ISSN: 0937-4477
Elektronische ISSN: 1434-4726
DOI
https://doi.org/10.1007/s00405-011-1910-6

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