Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

Clinical Genetics

Volumn 77, Issue 6, 2010, Pages 563-571

  Hildebrand, M S ^a   Thorne, N P ^b   Bromhead, C J ^b   Kahrizi, K ^c   Webster, J A ^d   Fattahi, Z ^c   Bataejad, M ^e   Kimberling, W J ^f   Stephan, D ^d,g,h   Najmabadi, H ^c   Bahlo, M ^b   Smith, R J H ^a,i  

^a UNIVERSITY OF IOWA   (United States)

^b WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^d TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^e ISLAMIC AZAD UNIVERSITY   (Iran)

^f BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^g ARIZONA ALZHEIMER S CONSORTIUM   (United States)

^h BANNER ALZHEIMER S INSTITUTE   (United States)

ⁱ UNIVERSITY OF IOWA   (United States)

Author keywords

DFNB2; Genetic modifier; Missense mutation; Motor domain; MYO7A gene; Myosin VIIA protein; USH1B

Indexed keywords

MYOSIN; MYOSIN VIIA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DISEASE SEVERITY; FAMILY; FEMALE; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION; PRIORITY JOURNAL; RETINA DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; USHER SYNDROME; VESTIBULAR DISORDER; AMINO ACID SEQUENCE; CHROMOSOME MAP; CONSANGUINITY; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; PERCEPTION DEAFNESS;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME MAPPING; CONSANGUINITY; FAMILY; FEMALE; HEARING LOSS; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOSINS;

EID: 77953917706     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01344.x     Document Type: Article

References (36)

1. Smith RJ, Bale JF, White KR. Sensorineural hearing loss in children. Lancet 2005, 365:879-90.
2. Van Camp G, Smith RJ. Hereditary hearing loss homepage. 2008, http://webhost.ua.ac.be/hhh/
3. Weil D, Blanchard S, Kaplan J. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995, 374:60-1.
4. Weil D, Kussel P, Blanchard S. 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.
5. Liu XZ, Walsh J, Mburu P. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 1997, 16:188-190.
6. Street VA. Kallman JC,Kiemele KL. Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation. J Med Genet 2004, 41:e62.
7. Luijendijk MW, Van Wijk E, Bischoff AM. Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Hum Genet 2004, 115:149-156. Epub 2004 Jun 2.
8. Liu XZ, Walsh J, Tamagawa Y. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 1997, 17:268-269.
9. Di Leva F, D'Adamo P, Cubellis MV. Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). Audiol Neurootol 2006, 11:157-164. Epub 2006 Jan 9.
10. Bolz H, Bolz SS, Schade G. Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). Hum Mutat 2004, 24:274-275.
11. Gibson F, Walsh J, Mburu P. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 1995, 374:62-64.
12. Frazer KA, Ballinger DG, Cox DR. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007, 449:851-861.
13. Riazuddin S, Nazli S, Ahmed ZM. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat 2008, 29:502-511.
14. Grimberg J, Nawoschik S, Belluscio L. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989, 17:8390.
15. Di X, Matsuzaki H, Webster TA. Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays. Bioinformatics 2005, 21:1958-1963. Epub 2005 Jan 18.
16. Abecasis GR, Cherny SS, Cookson WO. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002, 30:97-101. Epub 2001 Dec 3.
17. Bahlo M, Bromhead CJ. Generating linkage mapping files from Affymetrix SNP chip data. Bioinformatics 2009, 25:1961-1962.
18. Thiele H, Nurnberg P. HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics 2005, 21:1730-1732. Epub 2004 Sep 17.
19. Leutenegger AL, Labalme A, Genin E. Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. Am J Hum Genet 2006, 79:62-66. Epub 2006 Apr 28.
20. Leutenegger AL, Prum B, Genin E. Estimation of the inbreeding coefficient through use of genomic data. Am J Hum Genet 2003, 73:516-523. Epub 2003 Jul 29.
21. Schultz JM, Yang Y, Caride AJ. Modification of human hearing loss by plasma-membrane calcium pump PMCA2. N Engl J Med 2005, 352:1557-1564.
22. Kallman JC, Phillips JO, Bramhall NF. In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier. Otol Neurotol 2008, 29:860-867.
23. Adato A, Lefevre G, Delprat B. Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet 2005, 14:3921-3932. Epub 2005 Nov 21.
24. Adato A, Michel V, Kikkawa Y. Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet 2005, 14:347-356. Epub 2004 Dec 8.
25. Zina ZB, Masmoudi S, Ayadi H. From DFNB2 to Usher syndrome: variable expressivity of the same disease. Am J Med Genet 2001, 101:181-183.
26. Holmes KC, Geeves MA. The structural basis of muscle contraction. Philos Trans R Soc Lond B Biol Sci 2000, 355:419-431.
27. Astuto LM, Kelley PM, Askew JW. Searching for evidence of DFNB2. Am J Med Genet 2002, 109:291-297.
28. Flores-Guevara R, Renault F, Loundon N. Usher syndrome type 1: early detection of electroretinographic changes. 2008
29. Dominguez R, Freyzon Y, Trybus KM. Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state. Cell 1998, 94:559-571.
30. Boeda B, El-Amraoui A, Bahloul A. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J 2002, 21:6689-6699.
31. Verpy E, Leibovici M, Zwaenepoel I. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 2000, 26:51-55.
32. Weil D, El-Amraoui A, Masmoudi S. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 2003, 12:463-471.
33. Alagramam KN, Yuan H, Kuehn MH. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 2001, 10:1709-1718.
34. Bespalova IN, Van Camp G, Bom SJ. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 2001, 10:2501-2508.
35. Riazuddin S, Castelein CM, Ahmed ZM. Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nat Genet 2000, 26:431-434.
36. Bykhovskaya Y, Yang H, Taylor K. Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. Genet Med 2001, 3:177-180.