Genotype-phenotype correlation for dfna22: Characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to myo6 mutations

Audiology and Neurotology

Volumn 15, Issue 4, 2010, Pages 211-220

  Topsakal, Vedat ^a,c   Hilgert, Nele ^b   Van Dinther, Joost ^d   Tranebjærg, Lisbeth ^e,f   Rendtorff, Nanna D ^e   Zarowski, Andrzej ^d   Offeciers, Erwin ^d   Van Camp, Guy ^b   Van De Heyning, Paul ^c  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d SINT AUGUSTINUS HOSPITAL   (Belgium)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

^f BISPEBJERG HOSPITAL   (Denmark)

Author keywords

Age related typical audiograms; Autosomal dominant sensorineural hearing loss; DFNA22; Hereditary hearing impairment; Myosin VI

Indexed keywords

MYOSIN IV;

ADOLESCENT; ADULT; AGED; ARTICLE; AUDITORY THRESHOLD; BELGIUM; CHILD; CHROMOSOME ABERRATION; DOMINANT GENE; FEMALE; GENETICS; GENOTYPE; HAPLOTYPE; HEARING IMPAIRMENT; HETEROZYGOTE DETECTION; HUMAN; INFANT; MALE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; PERCEPTION DEAFNESS; PHENOTYPE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AUDITORY THRESHOLD; BELGIUM; CHILD; CHROMOSOME ABERRATIONS; DEAFNESS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENOTYPE; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE DETECTION; HUMANS; INFANT; MALE; MIDDLE AGED; MYOSIN TYPE IV; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 77952956030     PISSN: 14203030     EISSN: 14219700     Source Type: Journal    
DOI: 10.1159/000255339     Document Type: Article

References (26)

1. Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RS, Husnain T, Khan S, Griffith AJ, Friedman TB, Wilcox ER: Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet 2003; 72: 1315-1322.
2. Avraham KB, Hasson T, Steel KP, Kingsley DM, Russel LB, Mooseker MS, Copeland NG, Jenkins NA: The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for the structural integrity of inner ear hear cells. Nat Genet 1995; 11: 369-375.
3. Avraham KB, Hasson T, Steel KP, Kingsley DM, Russel LB, Mooseker MS, Copeland NG, Jenkins NA: Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snells's waltzer mice. Hum Mol Genet 1997; 6:1225-1231.
4. Gibson F, Walsh J, Mburu P, Varela A, Brown KA, Antonio M, Beisel KW, Steel KP, Brown SD: A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 1995; 374:62-64.
5. Hasson T, Mooseker MS: Porcine myosin-VI: characterization of a new mammalian unconventional myosin. Cell Biol 1994; 127: 425-440.
6. Hasson T, Skowron J, Gilbert DJ, Avraham KB, Perry WL, Bement WM, Anderson BL, Sherr EH, Chen ZY, Greene LA, Ward DC, Corey DP, Mooseker MS, Copeland NG, Jenkins NA: Mapping of unconventional myosins in mouse and human. Genomics 1996; 36: 431-439.
7. Hilgert N, Topsakal V, Van Dinther J, OE, Van de Heyning P, Van Camp G: A splice site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss. Eur J Hum Genet 2008; 16:593-602.
8. Huygen PLM, Pennings RJE, Cremers CWRJ: Characterising and distinguishing progressive phenoty pes in nonsyndromic autosomal dominant hearing impairment. Audiolol Med 2003; 1:37-46.
9. ISO7029: Acoustsics: Thresholds of Hearing by Air Conduction as a Function of Age and Sex for Otologically Normal Persons, ed 2. Geneva, International Organization for Standardization, 2000.
10. Leon PE, Raventos H, Lynch E, Morrow J, King MC: The gene for an inherited form of deafness maps to chromosome 5q31. Proc Natl Acad Sci USA 1992; 89:5181-5184.
11. Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC: Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 1997; 278: 1315-1318.
12. Melchionda S, Nadav A, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Lorio E, Carell M, Zelante L, Estivill X, Avraham KB, Gasparini P: 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: 635-640.
13. Mermall V, Post PL, Mooseker MS: Unconventional myosins in cell movement, membrane traffic and signal transduction. Science 1998; 279: 527-533.
14. Mohiddin SA, Ahmed ZM, Griffith AJ, Tripodi D, Friedman TB, Fananapazir L, Morell RJ: Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6). J Med Genet 2004; 41: 309-314.
15. Plantinga RF, de Brouwer AP, Huygen PL, Kunst HP, Kremer H, Cremers CW: A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation. J Assoc Res Otolaryngol 2006; 7:173-181.
16. Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, Morell RJ, Touchman JW, Lyons RH, Noben-Trauth K, Friedman TB, Camper SA: Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science 1998; 280: 1444-1447.
17. Sanggaard KM, Kjaer KW, Eiberg H, Nurnberg G, Nurnberg P, Hoffman K, Jensen H, Sorum C, Rendtorff N, Tranebjaerg L: A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. Am J Med Genet A 2008; 146: 1017-1025.
18. Smith RJ, Bale JF, White KR: Sensorineural hearing loss in children. Lancet 2005; 365: 879-890.
19. Sweeney HL, Houdusse A: What can myosin VI do in cells? Curr Opin Cell Biol 2007; 19:57-77.
20. Topsakal V, Pennings RJE, te Brinke H, Hamel B, Huygen PLM, Kemer H, Cremers CWRJ: Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hotspot mutation (W276S). Otol Neurotol 2005a; 26:52-58.
21. Topsakal V, Van Camp G, Van de Heyning P: Genetic testing for hearing impairment. BENT 2005b; 1:125-135.
22. Van Camp G, Smith R: Hereditary Hearing Loss Homepage. 2009. http://webh01.ua.ac.be/hhh/.
23. Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB: From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci USA 2002; 99:7518-7523.
24. Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB: Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 1998; 280: 1451.
25. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD: Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995; 374: 61.
26. Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, Ayadi H, Petit C: The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 1997; 16: 191-193.