Mutations in the first MyTH4 domain of MY015A are a common cause of DFNB3 hearing loss

Laryngoscope

Volumn 119, Issue 4, 2009, Pages 727-733

  Shearer, A Eliot ^a   Hildebrand, Michael S ^a   Webster, Jennifer A ^c   Kahrizi, Kimia ^d   Meyer, Nicole C ^a   Jalalvand, Khadijeh ^d   Arzhanginy, Sanaz ^d   Kimberling, William J ^e   Stephan, Dietrich ^c,f   Bahlo, Melanie ^g   Smith, Richard J H ^a,b   Najmabadi, Hossein ^d  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

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

^e BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^f BANNER ALZHEIMER S INSTITUTE   (United States)

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

Author keywords

DFNB3; Missense mutation; MY015A gene; Myosin 15a protein; MyTH4 domain

Indexed keywords

AMINO ACID; MYOSIN; PROTEIN; MYO15A PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; AUDIOMETRY; CLINICAL ARTICLE; DFNB3 GENE; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENOTYPE; HAIR CELL; HUMAN; INNER EAR; IRAN; MALE; MISSENSE MUTATION; MYP15A GENE; OTORHINOLARYNGOLOGY; PEDIGREE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHORT TANDEM REPEAT; CHROMOSOME 17; CHROMOSOME MAP; CONSANGUINITY; GENETICS; SEQUENCE ANALYSIS;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; CONSANGUINITY; FEMALE; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; IRAN; LOD SCORE; MALE; MUTATION, MISSENSE; MYOSINS; PEDIGREE; SEQUENCE ANALYSIS, PROTEIN;

EID: 65249156445     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1002/lary.20116     Document Type: Article

References (20)

1. Smith RJ, Bale J., White KR. Sensorineural hearing loss in children. Lancet 2005; 365:879-890.
2. Van Camp G., Smith RJH. Hereditary Hearing Loss Homepage. Available at: http://webh01.ua.ac.be/hhh/. Accessed June 17, 2008.
3. Friedman TB, Liang Y., Weber JL, et al. A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet 1995; 9:86-91.
4. Wang A., Liang Y., Fridell RA, et al. Association of unconventional myosin MYO15 mutations with human non-syndromic deafness DFNB3. Science 1998; 280:1447-1451.
5. Liang Y., Wang A., Belyantseva IA, et al. Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. Genomics 1999; 61:243-258.
6. Belyantseva IA, Boger ET, Friedman TB. Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proc Nat Acad Sci 2003; 100:13958-13963.
7. Krendel M., Mooseker MS. Myosins: tails (and heads) of functional diversity. Physiology (Bethesda) 2005; 20:239-251.
8. Di X., Matsuzaki H., Webster TA, et al. Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays. Bioinformatics 2005; 21:1958-1963.
9. Wigginton JE, Abecasis GR. PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 2005; 21:3445-3447.
10. Abecasis GR, Cherny SS, Cookson WO, et al. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 30:97-101.
11. International HapMap Consortium, Frazer KA, Ballinger DG, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007; 449:851-861.
12. Thiele H., Nurnberg P. HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics 2005; 21: 1730-1732.
13. Brown MR, Tomek MS, Van Laer L., et al. A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p. Am J Hum Genet 1997; 61:924-927.
14. Delprat B., Michel V., Goodyear R., et al. Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum Mol Genet 2005; 14:401-410.
15. Weil D., Kussel P., Blanchard S., et al. The autosomal recessive isolated deafness, DFNB2, and the Usher IB syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 1997; 16:191-193.
16. 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; 17:268-269.
17. Probst FJ, Fridell RA, Raphael Y., et al. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science 1998; 280:1444-1447.
18. Mburu P., Mustapha M., Varela A., et al. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet 2003; 34:421-428.
19. Ebermann I., Scholl HP, Charbel Issa P., et al. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet 2007; 121:203-211.
20. Weber KL, Sokac AM, Berg JS, Cheney RE, Bement WM. A microtubule-binding myosin required for nuclear anchoring and spindle assembly. Nature 2004; 431:325-329.