MYO7A

Summary

Gene Symbol: MYO7A
Description: myosin VIIA
Alias: DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B, unconventional myosin-VIIa, myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))
Species: human
Products:     MYO7A

Top Publications

  1. Bharadwaj A, Kasztejna J, Huq S, Berson E, Dryja T. Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. Exp Eye Res. 2000;71:173-81 pubmed
    ..It can be caused by mutations in at least six different loci (USH1A-1F). The gene encoding human myosin VIIA (MYO7A) is the USH1B locus...
  2. Luijendijk M, Van Wijk E, Bischoff A, Krieger E, Huygen P, Pennings R, et al. 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;115:149-56 pubmed
    ..syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) and autosomal dominant hearing impairment (DFNA11)...
  3. Ouyang X, Yan D, Du L, Hejtmancik J, Jacobson S, Nance W, et al. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet. 2005;116:292-9 pubmed
    ..Approximatelly 35-39% of the observed mutations involved the USH1B and USH1D genes, followed by 11% for USH1F and 7% for USH1C in non-Acadian alleles and 7% for USH1G...
  4. Hasson T, Heintzelman M, Santos Sacchi J, Corey D, Mooseker M. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proc Natl Acad Sci U S A. 1995;92:9815-9 pubmed
  5. Sakai T, Umeki N, Ikebe R, Ikebe M. Cargo binding activates myosin VIIA motor function in cells. Proc Natl Acad Sci U S A. 2011;108:7028-33 pubmed publisher
    ..Present findings support that MyRip, a cargo molecule, functions as an activator of myosin VIIA transporter function. ..
  6. Rizel L, Safieh C, Shalev S, Mezer E, Jabaly Habib H, Ben Neriah Z, et al. Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. Mol Vis. 2011;17:3548-55 pubmed
    ..For mutation analysis, specific primers were used to PCR amplify the coding exons of the MYO7A, USH1C, and USH1G genes including intron-exon boundaries. Mutation screening was performed with direct sequencing...
  7. Boëda B, El Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, et al. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J. 2002;21:6689-99 pubmed
    ..We propose that the shaping of the hair bundle relies on a functional unit composed of myosin VIIa, harmonin b and cadherin 23 that is essential to ensure the cohesion of the stereocilia. ..
  8. Weil D, Küssel P, Blanchard S, Levy G, Levi Acobas F, Drira M, et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet. 1997;16:191-3 pubmed
    ..1). Sequence analysis of each of the coding exons of the myosin-VIIA gene (MYO7A) was thus undertaken in the DFNB2-affected family...
  9. Chen Z, Hasson T, Kelley P, Schwender B, Schwartz M, Ramakrishnan M, et al. Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B. Genomics. 1996;36:440-8 pubmed
    ..Each repeat contains a novel "MyTH4" domain similar to domains in three other myosins, and a domain similar to the membrane-associated portion of talin and other members of the band-4.1 family. ..

More Information

Publications78

  1. Ben Rebeh I, Morinière M, Ayadi L, Benzina Z, Charfedine I, Feki J, et al. Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness. Mol Vis. 2010;16:1898-906 pubmed
    ..of the myosin VIIA (MYO7A) gene are reported to be responsible for both a deaf-blindness syndrome (Usher type 1B [USH1B] and atypical Usher syndrome) and nonsyndromic hearing loss (HL; Deafness, Neurosensory, Autosomal Recessive 2 [..
  2. Hildebrand M, Thorne N, Bromhead C, Kahrizi K, Webster J, Fattahi Z, et al. Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. Clin Genet. 2010;77:563-71 pubmed publisher
    Myosin VIIA mutations have been associated with non-syndromic hearing loss (DFNB2; DFNA11) and Usher syndrome type 1B (USH1B)...
  3. Watanabe S, Umeki N, Ikebe R, Ikebe M. Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function. Biochemistry. 2008;47:9505-13 pubmed publisher
    ..Here we clarified the effects of USH1B mutations on human myosin VIIa motor function for the first time...
  4. Baux D, Faugère V, Larrieu L, Le Guédard Méreuze S, Hamroun D, Beroud C, et al. UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Hum Mutat. 2008;29:E76-87 pubmed publisher
    ..a set of relational databases of nucleotide variations for seven genes involved in Usher syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, USH3A and USH2A)...
  5. Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, et al. Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C. Mol Vis. 2007;13:1862-5 pubmed
    Mutations in the MYO7A gene are responsible for Usher syndrome type 1B (USH1B), the most common USH1 subtype, which accounts for the largest proportion of USH1 cases in most populations...
  6. Di Leva F, d Adamo P, Cubellis M, D Eustacchio A, Errichiello M, Saulino C, et al. Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). Audiol Neurootol. 2006;11:157-64 pubmed
    ..A genome-wide scan found linkage to locus DFNA11. Sequencing of the MYO7A gene in the linked region identified a new missense mutation resulting in an Ala230Val ..
  7. Liu F, Li P, Liu Y, Li W, Wong F, Du R, et al. Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. Mol Vis. 2013;19:695-701 pubmed
    ..The microsatellite marker D11S937, which is close to the candidate gene MYO7A (USH1B locus), was selected for genotyping...
  8. Delprat B, Michel V, Goodyear R, Yamasaki Y, Michalski N, El Amraoui A, 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;14:401-10 pubmed
    ..The interaction between whirlin and NGL-1 might be involved in the stabilization of interstereociliar links. ..
  9. Weil D, El Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, et al. 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;12:463-71 pubmed
    ..USH1A-G) have been implicated in this disease to date, and four of the corresponding genes have been identified: USH1B, C, D and F...
  10. Ahmed Z, Bernstein S, Ahmed Z, Khan S, Griffith A, Morell R, et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001;69:25-34 pubmed
    ..A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F. ..
  11. Liu X, Walsh J, Mburu P, Kendrick Jones J, Cope M, Steel K, et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet. 1997;16:188-90 pubmed
    ..One locus for non-syndromic recessive deafness, DFNB2 (ref...
  12. Sun Y, Chen J, Sun H, Cheng J, Li J, Lu Y, et al. Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. J Hum Genet. 2011;56:64-70 pubmed publisher
    ..mutations reported in MYO7A, only five led to non-syndromic sensorineural deafness autosomal dominant type 11 (DFNA11)...
  13. Liu X, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel K, et al. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet. 1997;17:268-9 pubmed
  14. Inoue A, Ikebe M. Characterization of the motor activity of mammalian myosin VIIA. J Biol Chem. 2003;278:5478-87 pubmed
    ..The directionality of myosin VIIA was determined by using the polarity-marked dual fluorescence-labeled actin filaments. It was found that myosin VIIA is a plus-directed motor. ..
  15. Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Takizawa Y, Hosono K, et al. Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1. J Hum Genet. 2010;55:796-800 pubmed publisher
    ..USH type 1 (USH1), the second common type of USH, is frequently caused by MYO7A and CDH23 mutations, accounting for 70-80% of the cases among various ethnicities, including Caucasians, Africans ..
  16. Jacobson S, Cideciyan A, Gibbs D, Sumaroka A, Roman A, Aleman T, et al. Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Invest Ophthalmol Vis Sci. 2011;52:7924-36 pubmed publisher
    PURPOSE. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. METHODS...
  17. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 1995;374:60-1 pubmed
    ..Of three different genes responsible for USH1. USH1B maps to 11q13.5 (ref. 10) and accounts for about 75% of USH1 patients...
  18. Riazuddin S, Belyantseva I, Giese A, Lee K, Indzhykulian A, Nandamuri S, et al. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet. 2012;44:1265-71 pubmed publisher
    ..Furthermore, in zebrafish and Drosophila melanogaster, CIB2 is essential for the function and proper development of hair cells and retinal photoreceptor cells. We also show that CIB2 is a new member of the vertebrate Usher interactome. ..
  19. Liu X, Hope C, Walsh J, Newton V, Ke X, Liang C, et al. Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am J Hum Genet. 1998;63:909-12 pubmed
  20. Soni L, Warren C, Bucci C, Orten D, Hasson T. The unconventional myosin-VIIa associates with lysosomes. Cell Motil Cytoskeleton. 2005;62:13-26 pubmed
    Mutations in the myosin-VIIa (MYO7a) gene cause human Usher disease, characterized by hearing impairment and progressive retinal degeneration...
  21. Yoshimura H, Iwasaki S, Nishio S, Kumakawa K, Tono T, Kobayashi Y, et al. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. PLoS ONE. 2014;9:e90688 pubmed publisher
    ..1%) who carried at least one mutation. Seven patients had the MYO7A mutation (41.2%), which is the most common type in Japanese...
  22. Heissler S, Manstein D. Functional characterization of the human myosin-7a motor domain. Cell Mol Life Sci. 2012;69:299-311 pubmed publisher
    Myosin-7a participates in auditory and visual processes. Defects in MYO7A, the gene encoding the myosin-7a heavy chain, are causative for Usher syndrome 1B, the most frequent cause of deaf-blindness in humans...
  23. Street V, Kallman J, Kiemele K. Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation. J Med Genet. 2004;41:e62 pubmed
  24. Bolz H, Bolz S, Schade G, Kothe C, Mohrmann G, Hess M, et al. Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). Hum Mutat. 2004;24:274-5 pubmed
    Both myosin 7A (MYO7A) and calmodulin (CaM) are required for transduction and adaptation processes in inner ear hair cells. We identified a novel heterozygous missense mutation (c.2557C>T; p...
  25. Smits B, Peters T, Mul J, Croes H, Fransen J, Beynon A, et al. Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics. Genetics. 2005;170:1887-96 pubmed
    ..Candidate gene resequencing identified a point mutation that introduces a premature stopcodon in Myo7a. Mutations in human MYO7A result in Usher syndrome type 1B, a severe autosomal inherited recessive disease that ..
  26. Roux A, Faugère V, Le Guédard S, Pallares Ruiz N, Vielle A, Chambert S, et al. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet. 2006;43:763-8 pubmed
    ..The five genes currently known to cause USH1 (MYO7A, USH1C, CDH23, PCDH15, and USH1G) were tested for...
  27. Jaijo T, Aller E, Beneyto M, Najera C, Graziano C, Turchetti D, et al. MYO7A mutation screening in Usher syndrome type I patients from diverse origins. J Med Genet. 2007;44:e71 pubmed
  28. Riazuddin S, Nazli S, Ahmed Z, Yang Y, Zulfiqar F, Shaikh R, et al. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat. 2008;29:502-11 pubmed publisher
    Recessive mutations of MYO7A, encoding unconventional myosin VIIA, can cause either a deaf-blindness syndrome (type 1 Usher syndrome; USH1B) or nonsyndromic deafness (DFNB2)...
  29. Jaijo T, Aller E, Oltra S, Beneyto M, Najera C, Ayuso C, et al. Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat. 2006;27:290-1 pubmed
    ..Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B (USH1B)...
  30. Weil D, Levy G, Sahly I, Levi Acobas F, Blanchard S, El Amraoui A, et al. Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc Natl Acad Sci U S A. 1996;93:3232-7 pubmed
    The gene encoding human myosin VIIA is responsible for Usher syndrome type III (USH1B), a disease which associates profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa...
  31. Wolfrum U. The cellular function of the usher gene product myosin VIIa is specified by its ligands. Adv Exp Med Biol. 2003;533:133-42 pubmed
  32. Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, et al. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011;32:1450-9 pubmed publisher
    ..These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A. Therefore, in our LCA collection from Saudi Arabia, three of the 37 unassigned families carry mutations in ..
  33. Levy G, Levi Acobas F, Blanchard S, Gerber S, Larget Piet D, Chenal V, et al. Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet. 1997;6:111-6 pubmed
    ..Four novel mutations were thereby identified. The possibility should now be considered of a sequence-based prenatal diagnosis in some of the families affected by this very severe form of Usher syndrome. ..
  34. El Amraoui A, Schonn J, Küssel Andermann P, Blanchard S, Desnos C, Henry J, et al. MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes. EMBO Rep. 2002;3:463-70 pubmed
    ..The defect of this molecular complex is likely to account for the perinuclear mislocalization of the melanosomes observed in the retinal pigment epithelium cells of myosinVIIa-defective mice. ..
  35. Yoshimura H, Miyagawa M, Kumakawa K, Nishio S, Usami S. Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. J Hum Genet. 2016;61:419-22 pubmed publisher
    ..2%): three patients harbored MYO7A mutations and one each carried CDH23 or PCDH15 mutations...
  36. Jacobson S, Aleman T, Sumaroka A, Cideciyan A, Roman A, Windsor E, et al. Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Invest Ophthalmol Vis Sci. 2009;50:1886-94 pubmed publisher
    To study retinal microstructure in Usher Syndrome type 1B (USH1B) caused by MYO7A mutations as a prelude to treatment initiatives. Patients with MYO7A-USH1B (n=17; ages 5-61) were studied with optical coherence tomography...
  37. Kaneko Y, Nakano A, Arimoto Y, Nara K, Mutai H, Matsunaga T. The first sporadic case of DFNA11 identified by next-generation sequencing. Int J Pediatr Otorhinolaryngol. 2017;100:183-186 pubmed publisher
    We report the first sporadic case of nonsyndromic autosomal dominant hearing loss (DFNA11). The patient was a 5-year-old boy with moderate bilateral hearing loss...
  38. Kastner S, Thiemann I, Dekomien G, Petrasch Parwez E, Schreiber S, Akkad D, et al. Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families. Invest Ophthalmol Vis Sci. 2015;56:8045-53 pubmed publisher
    ..1662_1665delAGAA; p.Glu555Glyfs*14) and a recently described USH1-causing missense mutation in MYO7A (c.472G>A, p.Gly158Arg). Furthermore, a novel 1 bp deletion in the VCAN gene (c.5118delA; p...
  39. Bakhchane A, Charif M, Bousfiha A, Boulouiz R, Nahili H, Rouba H, et al. Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. PLoS ONE. 2017;12:e0176516 pubmed publisher
    ..Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B)...
  40. Sun J, Van Alphen A, Wagenaar M, Huygen P, Hoogenraad C, Hasson T, et al. Origin of vestibular dysfunction in Usher syndrome type 1B. Neurobiol Dis. 2001;8:69-77 pubmed
    ..We conclude that the vestibular dysfunction of Usher 1B patients and shaker-1 mice is peripheral in origin. ..
  41. Tang Z, Chen J, Zheng J, Shi H, Ding J, Qian X, et al. Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells. Stem Cells Transl Med. 2016;5:561-71 pubmed publisher
    ..In the present study, iPSCs were generated from a deaf patient with compound heterozygous MYO7A mutations (c.1184G>A and c.4118C>T; P-iPSCs), the asymptomatic father of the patient (MYO7A c...
  42. Frejo L, Giegling I, Teggi R, Lopez Escamez J, Rujescu D. Genetics of vestibular disorders: pathophysiological insights. J Neurol. 2016;263 Suppl 1:S45-53 pubmed publisher
    ..Some Mendelian sensorineural hearing loss also exhibits vestibular dysfunction, including DFNA9, DFNA11, DFNA15 and DFNA28...
  43. AtIk T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, et al. Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. PLoS ONE. 2015;10:e0142154 pubmed publisher
    ..Remaining 14 families had 15 different variants in other known NSHL genes (MYO7A, MYO15A, MARVELD2, TMIE, DFNB31, LOXHD1, GPSM2, TMC1, USH1G, CDH23). Of these variants, eight are novel...
  44. Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore A, Luxon L, et al. Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation. Ophthalmology. 2014;121:580-7 pubmed publisher
    To evaluate the phenotypic variability and natural history of ocular disease in a cohort of 28 individuals with MYO7A-related disease...
  45. Maubaret C, Griffoin J, Arnaud B, Hamel C. Novel mutations in MYO7A and USH2A in Usher syndrome. Ophthalmic Genet. 2005;26:25-9 pubmed
    ..Three clinical types (USH1, USH2, USH3) and 11 mutated genes or loci have been described. Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes type 1 and 2, respectively...
  46. Baux D, Vache C, Blanchet C, Willems M, Baudoin C, Moclyn M, et al. Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. Sci Rep. 2017;7:16783 pubmed publisher
    ..genotypes were identified in 19 different genes, with a high prevalence of GJB2, STRC, MYO15A, OTOF, TMC1, MYO7A and USH2A. Involvement of an Usher gene was reported in 16% of the genotyped cohort...
  47. Pan N, Jahan I, Kersigo J, Kopecky B, Santi P, Johnson S, et al. Conditional deletion of Atoh1 using Pax2-Cre results in viable mice without differentiated cochlear hair cells that have lost most of the organ of Corti. Hear Res. 2011;275:66-80 pubmed publisher
    ..However, some of the remaining organ of Corti cells express Myo7a at late postnatal stages and are innervated by remaining afferent fibers...
  48. Sloan Heggen C, Babanejad M, Beheshtian M, Simpson A, Booth K, Ardalani F, et al. Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet. 2015;52:823-9 pubmed publisher
    ..and their families, with over half of all diagnoses attributable to variants in five genes: SLC26A4, MYO15A, MYO7A, CDH23 and PCDH15...
  49. Yan D, Tekin D, Bademci G, Foster J, Cengiz F, Kannan Sundhari A, et al. Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Hum Genet. 2016;135:953-61 pubmed publisher
    ..The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP...
  50. Gibbs D, Cideciyan A, Jacobson S, Williams D. Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence. Invest Ophthalmol Vis Sci. 2009;50:4386-93 pubmed publisher
    ..under development for use in the most common genetic variant of USH1, USH1B, which is caused by mutations in the MYO7A gene...
  51. Sakai T, Jung H, Sato O, Yamada M, You D, Ikebe R, et al. Structure and Regulation of the Movement of Human Myosin VIIA. J Biol Chem. 2015;290:17587-98 pubmed publisher
    ..These results suggest that HM7A can transport its cargo molecules, such as USH1 proteins, upon release of the tail-dependent inhibition. ..
  52. Zong L, Chen K, Wu X, Liu M, Jiang H. Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. Int J Pediatr Otorhinolaryngol. 2016;90:150-155 pubmed publisher
    ..An unreported splice site mutation c.3924+1G > C compound with c.6028G > A in the MYO7A gene were detected to cosegregate with the phenotype in this pedigree...
  53. Weston M, Kelley P, Overbeck L, Wagenaar M, Orten D, Hasson T, et al. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am J Hum Genet. 1996;59:1074-83 pubmed
    Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa...
  54. He X, Peng Q, Li S, Zhu P, Wu C, Rao C, et al. A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family. Int J Pediatr Otorhinolaryngol. 2017;99:40-43 pubmed publisher
    ..The proband harbored two mutations in the MYO7A gene in the form of compound heterozygosity. She was found to be heterozygous for a novel insertion mutation c...
  55. Almontashiri N, Alswaid A, Oza A, Al Mazrou K, Elrehim O, Tayoun A, et al. Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. Genet Med. 2017;: pubmed publisher
    ..Arg1792His) accountable for a third of all "positive" cases. The next most common cause was pathogenic variants in MYO7A and SLC26A4, each responsible for three "positive" cases...
  56. Xiong A, Haithcock J, Liu Y, Eusner L, McConnell M, White H, et al. The shaker-1 mouse myosin VIIa deafness mutation results in a severely reduced rate of the ATP hydrolysis step. J Biol Chem. 2018;293:819-829 pubmed publisher
    ..properties and the effect on the filopodial tip localization of the recombinant mouse myosin VIIa-5IQ-SAH R502P (myoVIIa-sh1) construct...
  57. Kussel Andermann P, El Amraoui A, Safieddine S, Nouaille S, Perfettini I, Lecuit M, et al. Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex. EMBO J. 2000;19:6020-9 pubmed
    ..In myosin VIIA-defective mutants, inactivity of the vezatin-myosin VIIA complex at both sites could account for splaying out of the hair cell stereocilia. ..
  58. Sodi A, Mariottini A, Passerini I, Murro V, Tachyla I, Bianchi B, et al. MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. Mol Vis. 2014;20:1717-31 pubmed
    To analyze the spectrum of sequence variants in the MYO7A and USH2A genes in a group of Italian patients affected by Usher syndrome (USH). Thirty-six Italian patients with a diagnosis of USH were recruited...
  59. Rong W, Chen X, Zhao K, Liu Y, Liu X, Ha S, et al. Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. PLoS ONE. 2014;9:e97808 pubmed publisher
    ..Using targeted next-generation sequencing (NGS) approach, three new alleles and one known mutation in MYO7A gene were identified in the three families. In two families with USH type 1, novel homozygous frameshift variant p...
  60. Etournay R, El Amraoui A, Bahloul A, Blanchard S, Roux I, Pezeron G, et al. PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa. J Cell Sci. 2005;118:2891-9 pubmed
    ..Moreover, as both myosins have been implicated in the mechanotransduction slow adaptation process that takes place in the hair bundles, we propose that PHR1 is also involved in this process. ..
  61. Kimberling W, Moller C, Davenport S, Priluck I, Beighton P, Greenberg J, et al. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics. 1992;14:988-94 pubmed
    ..Another USH1 gene had been previously localized to chromosome 14q, and this second localization establishes the existence of a new and independent locus for Usher syndrome. ..
  62. Jaijo T, Aller E, García García G, Aparisi M, Bernal S, Avila Fernandez A, et al. Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Invest Ophthalmol Vis Sci. 2010;51:1311-7 pubmed publisher
    ..Results must be confirmed by direct sequencing to avoid misdiagnosis, and continuous updates of the microarray should be performed to increase the efficiency and rate of detection of mutations. ..
  63. Guzmán H, Palacios A, De Almada M, Utrera R. A novel homozygous MYO7A mutation involved in a Venezuelan population with high frequency of USHER1B. Ophthalmic Genet. 2016;37:328-30 pubmed publisher
    Macanao's population in Venezuela has perhaps the greatest incidence of USH1B known in Latin America (79 cases per 100,000 population); however, until now no mutation in the MYO7A gene had been reported for this population...
  64. Ben Rebeh I, Grati M, Bonnet C, Bouassida W, Hadjamor I, Ayadi H, et al. Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. Mol Vis. 2016;22:827-35 pubmed
    ..Six USH1 genes have been identified, MYO7A, CDH23, PCDH15, USH1C, SANS, and CIB2, encoding myosin VIIA, cadherin-23, protocadherin-15, harmonin, scaffold ..
  65. Gao X, Wang G, Yuan Y, Xin F, Han M, Lu J, et al. Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family. PLoS ONE. 2014;9:e103415 pubmed publisher
    ..The most severe form is Usher syndrome type 1 (USH1). Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese family (no...
  66. Beheshtian M, Babanejad M, Azaiez H, Bazazzadegan N, Kolbe D, Sloan Heggen C, et al. Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review. Arch Iran Med. 2016;19:720-728 pubmed
    ..to cause non-syndromic HHL in Iran, of which the most prevalent causative genes include GJB2, SLC26A4, MYO15A, and MYO7A. In addition, we highlight some of the more common genetic causes of syndromic HHL in Iran...
  67. Testa F, Melillo P, Bonnet C, Marcelli V, De Benedictis A, Colucci R, et al. CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A. Retina. 2017;37:1581-1590 pubmed publisher
    To evaluate differences in the visual phenotype and natural history of Usher syndrome caused by mutations in MYO7A or USH2A, the most commonly affected genes of Usher syndrome Type I (USH1) and Type II (USH2), respectively...
  68. Wagenaar M, ter Rahe B, van Aarem A, Huygen P, Admiraal R, Bleeker Wagemakers E, et al. Clinical findings in obligate carriers of type I Usher syndrome. Am J Med Genet. 1995;59:375-9 pubmed
    ..Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities. ..
  69. Blanchet C, Roux A, Hamel C, Ben Salah S, Artieres F, Faugère V, et al. [Usher type I syndrome in children: genotype/phenotype correlation and cochlear implant benefits]. Rev Laryngol Otol Rhinol (Bord). 2007;128:137-43 pubmed
    ..Four new mutations 2 in the MYO7A gene and 2 in the CDH23 gene never reported before were found...