The Usher syndromes

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 89, Issue 3, 1999, Pages 158-166

  Keats, Bronya J B ^a   Corey, David P ^b  

^a LOUISIANA STATE UNIV MEDICAL CENTER   (United States)

^b NONE

Author keywords

Clinical heterogeneity; Genetic heterogeneity; Hearing impairment; Myosin VIIa; Pigmentary retinopathy

Indexed keywords

CELL ADHESION MOLECULE; MYOSIN; SCLEROPROTEIN;

ACTIN FILAMENT; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 11Q; CHROMOSOME 1Q; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; HEARING IMPAIRMENT; MEMBRANE TRANSPORT; PHENOTYPE; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA PIGMENT DEGENERATION; RETINOPATHY; REVIEW; STEREOCILIUM; USHER SYNDROME; VESTIBULAR DISORDER; VISUAL IMPAIRMENT;

EID: 0033600949     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19990924)89:3<158::aid-ajmg6>3.0.co;2-%23     Document Type: Review

References (110)

1. Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonné-Tamir B. 1997. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. Am J Hum Genet 61: 813-821.
2. Arden GB, Fox B. 1979. Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa. Nature 279:534-536.
3. Ayyagari R, Li Y, Smith RJ, Pelias MZ, Hejtmancik JF. 1995. Fine mapping of the Usher syndrome type IC to chromosome 11p14 and identification of flanking markers by haplotype analysis. Molecular Vision 1:2.
4. Ayyagari R, Nestorowicz A, Li Y, Chandrasekharappa S, Chinault C, van Tuinen P, Smith RJ, Hejtmancik JF, Permutt MA. 1996. Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. Genome Res 6:504-514.
5. Bazan NG, Scott BL, Reddy TS, Pelias MZ, 1986. Decreased content of docosahexacnoate and arachidonate in plasma phospholipids in Usher's syndrome. Biochem Biophys Res Commun 141:600-604.
6. Belal A. 1975. Usher's syndrome (retinitis pigmentosa and deafness). J Laryngol Otol 89: 175-182.
7. Bement WM, Hasson T, Wirth JA, Cheney RE, Mooseker MS. 1994. Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types. Proc Natl Acad Sci USA 91:11767.
8. Berson EL, Adamian M. 1992. Ultrastructural findings in an autopsy eye from a patient with Usher's syndrome type II. Am J Ophthalmol 114:748-757.
9. Bessant DA, Payne AM, Plant C, Bird AC, Bhattacharya SS. 1998. Further refinement of the Usher 2A locus at 1q41. J Med Genet 35:773-774.
10. Bonné-Tamir B, Korostishevsky M, Kalinsky H, Seroussi E, Beker R, Weiss S, Godel V. 1994. Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred, Genomics 20:36-42.
11. Boughman JA, Vernon M, Shaver KA. 1983. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis 36:595-603.
12. Chaib H, Place C, Salem N, Dode C, Chardenoux S, Weissenbach J, El Zir E, Loiselet J, Petit C. 1996. Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum Molec Genet 5:1061-1064.
13. Chaib H, Kaplan J, Gerber S, Vincent C, Ayadi H, Slim R, Munnich A, Weissenbach J, Petit C. 1997. A newly identified locus for Usher syndrome, USH1E, maps to chromosome 21q21. Hum Molec Genet 6:27-31.
14. Chen ZY, Hasson T, Kelley PM, Schwender BJ, Schwartz MF, Ramakrishanan M, Kimberling WJ, Mooseker MS, Corey DP. 1996. Molecular cloning and domain structure of human myosin VIIa, the gene product defective in Usher syndrome IB, Genomics 36:440-448.
15. Cremers CW, Delleman WJ. 1988. Usher's syndrome, temporal hone pathology. In J Pediatr Otorhinolaryngol 16:23-30.
16. Davenport SLH, Omenn GS. 1977. The heterogeneity of Usher syndrome. Publication 426. Amsterdam: Excerpta Medica Foundation, International Congress Series, abstract 215, p 87-88.
17. DeAngelis MM, Doucet JP, Drury S, Sherry ST, Robichaux MB, Den Z, Pelias MZ, Ditta GM, Keats BJ, Deininger PL, Batzer MA. 1998. Assembly of a high-resolution map of the Acadian Usher syndrome region and localization of the nuclear EF-hand acidic gene. Biochim Biophys Acta 1407:84-91.
18. Deol MS. 1956. The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. Proc R Soc Lond B Biol Sci 145:206-213.
19. Edwards A, Grover S, Fishman GA. 1996 Frequency of photographically apparent optic disc and parapapillary nerve fiber layer drusen in Usher syndrome. Retina 16:388-392.
20. Edwards A, Fishman GA, Anderson RJ, Grover S. Derlacki DJ. 1998. Visual acuity and visual field impairment in Usher syndrome. Arch Ophthalmol 116:165-168.
21. Eudy JD, Ma-Edmonds M, Yao SF, Talmadge CB, Kelley PM, Weston MD, Kimberling WJ, Sumegi J. 1997. Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32. Genomics 43:104-106.
22. Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Möller C, Talmalge CB, Beiset KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J. 1998. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280:1753-1757.
23. Fishman GA, Kumar A, Joseph ME, Torok N, Anderson R. 1983. Usher's syndrome: ophthalmic and neuro-otologic findings suggesting genetic heterogeneity. Arch Ophthalmol 101:1367-1374.
24. Fishman GA, Anderson KJ, Lam BL, Derlacki DJ. 1995. Prevalence of foveal lesions in type 1 and type 2 Usher's syndrome. Arch Ophthalmol 113:7711-773.
25. Gasparini P, De Fazio A, Croce AI, Stanziale P, Zelante L. 1998. Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. J Med Genet 35:666-667.
26. Gibson F, Walsh J, Mburu P, Varela A, Brown KA, Antonio M, Beisel KW, Steel KP, Brown SDM. 1995. A type VII myosin encoded by the mouse deafness gene Shaker-1. Nature 374:62-64.
27. Gorlin RJ, Toriello HV, Cohen MM. 1995. Hereditary hearing loss and its syndromes. Oxford: Oxford University Press.
28. Grondahl J. 1987. Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet 31:255-264.
29. Hallgren B. 1959. Retimtis pigmentosa combined with congenital deafness with vestobulo-cerebellar ataxia and mental abnormality in a proportion of cases. A clinical and genetico-statistical study. Acta Psychiatry Scand Suppl 138:5-101.
30. Hasson T. 1997. Unconventional myosins, the basis for deafness in mouse and man. Am J Hum Genet 61:801-805.
31. Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS. 1995. Expression in cochlea and retina of myosin-VIIa, the gene product defective in Usher syndrome type 1B. Proc Natl Acad Sci USA 92:9815-9819.
32. Hasson T, Walsh J, Cable J, Mooseker MS, Brown SD, Steel KP. 1997a. Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression. Cell Motil Cytoskeleton 37:127-138.
33. Hasson T, Gillespie PG, Garcia JA, MacDonald RB, Zhao Y, Yee AG, Mooseker MS, Corey DP. 1997b. Unconventional myosins in inner-ear sensory epithelia. J Cell Biol 137: 1287-1307.
34. Heckenlively JR, Chang B, Erway LC, Peng C, Hawes NL, Hageman GS, Roderick TH. 1995. Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15. Proc Natl Acad Sci USA 92: 11100-11104.
35. Higgins MJ, Day CD, Smilinich NJ, Ni L, Cooper PR, Nowak NJ, Davies C, de Jong PJ, Hejtmancik F, Evans GA, Smith RJ, Shows TB. 1998. Contig maps and genomic sequencing identify candidate genes in the Usher 1C locus. Genome Res 8:57-68.
36. Hinderlink JB, Brokx JP, Mens LH, van den Broek P. 1994. Results from four cochlear implant patients with Usher's syndrome. Ann Otol Rhinol Laryngol 103:285-293.
37. Hope CI, Bundey S, Proops D, Fielder AR. 1997. Usher syndrome in the city ot Birmingham - prevalence and clinical classification. Br J Ophthalmol 81:46-53.
38. Hunter DG, Fishman GA, Mehta RS, Kretzer FL. 1986. Abnormal sperm and photoreceptor axonemes in Usher's syndrome. Arch Ophthalmol 104:385-389.
39. Jain PK, Lalwani AK, Li XC, Singleton TL, Smith TN, Chen A, Deshmukh D, Verma IC, Smith RJH, Wilcox ER. 1998. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. Genomics 50:2911-292.
40. Joensuu T, Blanco G, Pakarinen L, Sistonen P, Kääriänen H, Brown S, Chapelle A, Sankila EM. 1996, Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. Genomics 38:255-263.
41. Kachar B, Battaglia A, Fex J. 1997. Compartmentalized vesicular traffic around the hair cell cuticular plate. Hear Res 107:102-112.
42. Kaplan J, Gerber S, Bonneau D, Rozet J, Delrieu O, Briard M, Dollfus H, Ghazi I, Dufier J, Frézal J, Munnich A. 1992. A gene for Usher syndrome type 1 (USH1) maps to chromosome 14q. Genomics 14:979-988.
43. Keats BJB, Nouri N, Pelias MZ, Deminger PL, Litt M. 1994. Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Am J Hum Genet 54:681-686.
44. Kimberling WJ, Weston MD, Möller CG, Davenport SLH, Shugart YY, Priluck IA, Martini A, Smith RJH. 1990. Localization of Usher syndrome type II to chromosome 1q. Genomics 7:245-249.
45. Kimberling WJ, Weston MD, Pieke Dahl S, Kenyon JB, Shugart YY, Möller C, Davenport SLH, Martini A, Milani M, Smith RJ. 1991. Genetic studies of Usher syndrome. Ann NY Acad Sci 630:167-175.
46. Kimberling WJ, Möller CG, Davenport S, Priluck IA, Beighton PH, Greenberg J, Reardon W, Weston MD, Kenyon JB, Grunkmeyer JA, Pieke Dahl S, Overbeck LD, Blackwood DJ, Brower AM, Hoover DM, Rowland P, Smith RJH. 1992. Linkage of Usher syndrome type I gene (USH1B) to the king arm of chromosome 11. Genomics 14:988-994.
47. Kimberling WJ, Weston MD, Möller C, van Aarem A, Cremers CW, Sumegi J, Ing PS, Connolly C, Martini A, Milani M, Tamayo M, Bernal J, Greenberg J, Ayuso C. 1995. Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. American Jourmal of Human Genetics 56:216-223.
48. Kimberling WJ, Pieke Dahl S, Weston MD. 1999. Usher syndrome type Ib. GeneClinics: Medical Genetics Knowledge Base. World Wide Web URL: http:// www.geneclinics.org/profiles/deafness-overview/
49. Kloepfer HW, Laguaite JK, McLaurin JW. 1966. The hereditary syndrome of congenital deafness and retinitis pigmentosa (Usher's syndrome). Laryngoscope 76:850-862.
50. Larget-Piet D, Gerher S, Bonneau D, Rozet JM, Marc S, Ghazi I, Dufier JL, David A, Bitoun P, Weissenbach J, Munnich A, Kaplan J. 1994. Genetic heterogeneity of Usher syndrome type 1 in French families. Genomics 21:138-143.
51. Lewis RA, Otterud B, Stauffer D, Lalouel JM, Leppert M. 1990. Mapping recessive ophthalmic diseases: Linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics 7:250-256.
52. Liu XZ, Newton VE, Steel KP, Brown SDM. 1997a. Identification of a new mutation of the head region of myosin VII gene in Usher syndrome type 1. Hum Mutat 10: 168-170.
53. Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJTV, Steel KP, Brown SDM. 1997b. Mutations in the myosin VIIA gene cause non-syudromic recessive deafness. Nature Genet 16:188-190.
54. Lui XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel K, Brown S. 1997c. Autosomal dominant non-syndromic deafness (DFNA11) caused by a mutation in the myosin VIIA gene. Nature Genet 17:268-269.
55. Liu X, Vansant G, Udovichenko IP. Wolfrum U, Williams DS. 1997d. Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells, Cell Motil Cytoskeleton 37:240-252.
56. Liu XZ, Hope CI, Walsh J, Newton V, Ke XM, Liang CY, Xu LR, Zhou JM, Trump D, Steel KP, Bundey S, Brown SDM. 1998a. Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am J Hum Genet 63: 909-912.
57. Liu X, Ondek B, Williams DS. 1998b. Mutant myosin VIIa causes detective melanosome distribution in the RPF of shaker-1 mice. Nat Genet 19:117-118.
58. Liu XZ, Hope CI, Liang CY, Zou JM, Xu LR, Cole T, Mueller RF, Bundey S, Nance S, Steel KP, Brown SDM. 1999a. A mutation (2314delG) in the Usher syndrome type IIa gene: high prevalence and phenotypic variation. Am J Hum Genet 64:1221-1225.
59. Liu X, Udovichenko, IP. Brown SDM, Steel KP, Williams DS. 1999b. Myosin VIIa participates in opsin transport through the photoreceptor ciluim. J Neurosci 19:6267-6274.
60. Marietta J, Walters KS, Burgess R, Ni L, Fukushima K, Moore KC, Hejtmancik JF, Smith RJ. 1997. Usher's syndrome type IC: clinical studies and fine-mapping the disease locus. Ann Otol Rhinol Laryngol 106:123-128.
61. Maude MB, Anderson EO, Anderson RE. 1998. Polyunsaturated fatty acids are lower in blood lipids of Usher's type I but not Usher's type II. Invest Ophthalmol Vis Sci 39: 2164-2166.
62. Mburu P, Liu XZ, Walsh J, Saw D, Cope MJTV, Gibson F, Kendrick-Jones J, Steel KP, Brown SD. 1997. Mutation analysis of the mouse myosin VIIA deafness gene, Genes Funct 1:191-203.
63. Meredith R, Stephens D, Sirimanna T, Meyer-Bisch C, Reardon W. 1992. Audiometric detection of carriers of Usher's syndrome type II. J Andiol Med 1:11-19.
64. Miner ID. 1995. Psychosocial implications of Usher syndrome, Type I, throughout the life cycle. Journal of Visual Impairment & Blindness 89:287-296.
65. Möller CG, Kimberling WJ, Davenport SLH, Priluck I, White V, Biscone-Halterman K, Odkvist LM, Brookhouser PE, Lund G, Grissom TJ. 1989. Usher syndrome: an otoneurologic study. Laryngoscope 99:73-79.
66. Morell R, Kim JJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, Keats BJB, Friedman TB. 1998. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with non-syndromic recessive deafness. New Engl J Med 339:1500-1505.
67. Nadol JB. 1988a. Innervation densities of inner and outer hair cells of the human organ of Corti. Evidence for auditory neural degeneration in a case of Usher's syndrome. Journal of Oto-Rhino-Laryngology & its Related Specialties 50:363-370.
68. Nadol JB. 1988b. Application of electron microscopy to human otoparhology. Ultrastructural findings in neural presbycusis. Meniere's disease and Usher's syndrome. Acta Otolaryngol (Stockh) 105:411-419.
69. Nuutila A. 1970. Dystropia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher or Hallgren syndrome. J Hum Genet 18:57-88.
70. Pakarinen L, Karjalainen S, Simola KOJ, Laippaia P, Kaitalo H. 1995. Usher syndrome type 3 in Finland. Laryngology 105:613-617.
71. Pieke Dahl S, Kimberling WJ, Gorin MB, Weston MD, Furman JMR, Pikus A, Möller C. 1993. Genetic heterogeneity of Usher syndrome type II. J Med Genet 30:843-848.
72. Pieke-Dahl S, van Aarem A, Dobin A, Cremers CW, Kimberling WJ. 1996. Genetic heterogencity of Usher syndrome type II in a Dutch population. J Med Genet 33:753-757.
73. Pieke Dahl S, Kelly PM, Astuto LM, Weston MD, Kenyon JB, Kimberling WJ. 1998. Localization of USH2B to 5q14.3-q21.3. Abstract presented at the Molecular Biology of Hearing and Deafness meeting, Bethesda, October 8-11. 1998.
74. Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, Morell RJ, Tonchman JW, Lyons RH, Noben-Trauth K, Friedman TB, Camper SA. 1998. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science 280:1444-1447.
75. Richardson GP, Forge A, Kros CJ, Fleming J, Brown SD, Steel KP. 1997. Myosin VIIA is required for aminoglycoside accumulation in cochlear hair cells. J Neurosci 17:9506-9519.
76. Rosenberg T, Haim M, Hauch AM, Parving A. 1997. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet 51:314-21.
77. Rushton WF. 1979. The Cajuns: from Acadia to Louisiana. New York: Farrar Straus Giroux.
78. Sahly I, El-Amraoui A, Abitbol M, Petit C, Dufier JL. 1997. Expression of myosin VIIA during mouse embryogenesis. Anat Embryol (Berl) 196:159-70.
79. Sankila EM, Pakarinen L, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la Chapelle A. 1995. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Molec Genet 4:93-98.
80. Saouda M, Mansour A, Bou Moglabey Y, El Zir E, Mustapha M Chaib H, Nehme A, Megarbane A, Loiselet J, Petit C, Slim R. 1998. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. Hum Genet 103: 193-198.
81. Schaefer GB, Bodenstemer JB, Thompson JN, Kimberling WJ, Craft JM. 1998. Volumetric neuroimaging in Usher syndrome: evidence of global involvement. Am J Med Genet 79:1-4.
82. Self T, Mahony M, Fleming J, Walsh J, Brown SD, Steel KP. 1998. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development 125:557-556.
83. Shinkawa H, Nadol JB. 1986. Histopathology of the inner ear in Usher's syndrome as observed by light and electron microscopy. Ann Otol Rhinol Laryngol 95:313-318.
84. Smith RJH, Berlin CI, Hejtmancik JF, Keats BJB, Kimberling WJ, Lewis RA, Möller CG. Pelias MZ, Tranebjærg L. 1994. Clinical diagnosis of the Usher syndromes. Am J Med Genet 50:32-32.
85. Smith RJH, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJB, Jay M, Bird A, Reardon W, Guest M, Ayyagari R, Hejtmancik JF. 1992a. Localization of two genes for Usher syndrome type 1 to chromosome 11. Genomics 14:995-1002.
86. Smith RJ, Pelias MZ, Daiger SP, Keats B, Kimberling W, Hejtmancik JF. 1992b. Clinical variability and genetic heterogeneity within the Acadian Usher population. Am J Med Genet 43:964-969.
87. Sole CK, Derfler BH, Duyk GM, Corey DP. 1994. Molecular cloning ot myosins from the bullfrog saccular macula: a candidate for the adaptation motor. Auditory Nenrosci 1: 63-75.
88. Steel KP, Bock GR. 1983. Hereditary inner-ear abnormalities in animals. Relationships with human abnormalities. Arch Otolaryngol 109:22-29.
89. Sumegi J, Wang JY, Zhen DK, Eudy JD, Talmadge CB, Li BF, Berglund P, Weston MD, Yao SF, Ma-Edmonds M, Overbeck L, Kelley PM, Zabaroviky E, Uzvolgyi E, Stanbridge EJ, Klein G, Kimberling WJ. 1996. The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41. Genomics 35:79-86.
90. Tamayo ML, Bernal JE, Tamayo GE, Frias JL, Alvira G, Vergara O, Rodriguez V, Uribe JI, Silva JC. 1991. Usher syndrome: results of a screening program in Colombia. Clin Genet 40:304-311.
91. Tamayo ML, Rodriguez A, Molina R, Martinez M, Bernal JE. 1997. Social, familial and medical aspects of Usher syndrome in Colombia. Genetic Counseling 8:235-240.
92. Usher CH. 1914. On the inheritance of retinitis pigmentosa, with notes of cases. R Loud Ophthalmol Hosp Rep 19:130-236.
93. van Aarem A, Cremers WR, Benraad-van Rens MJ. 1995a. Usher syndrome. A temporal bone report. Arch Otolaryngol Head Neck Surg 121:916-921.
94. van Aarem A, Cremers CW, Pinckers AJ, Huygen PL, Hombergen GC, Kimberling WJ. 1995b. The Usher syndrome type 2A: clinical findings in obligate carriers. In J Pediatr Otorhimolaryngol 31:159-174.
95. van Aarem A, Wagenaar M, Pinckers AJ, Huygen PL, Bleeker-Wagemakers EM, Kimberling BJ. Cremers CW. 1995c. Ophthalmologic findings in Usher syndrome type 2A. Ophthalmic Genetics 16:151-158.
96. Van Camp G, Smith RJH. 1999. Hereditary Hearing Loss Homepage. World Wide Web URL: http://dnalab-www.uia.ac.be/ dnalab/hhh.
97. Vernon M. 1969. Usher's syndrome - deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. Journal of Chronic Diseases 22:133-51.
98. Wagenaar M, ter Rahe B, van Aarem A, Huygen P. Admiraal R, Bleeker-Wagemakers E, Pinckers A, Kimberling W, Cremers C, 1995. Clinical findings in obligate carriers of type I Usher syndrome. American J Med Genet 59:375-379.
99. Wagenaar M, Sink AF, Kimberling WJ, Cremers CW. 1996. Carriers of the Usher syndrome type 1B: is audiometric identification possible? American Journal of Otology 17:853-858.
100. Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Traurth K, Camper SA, Friedman TB. 1998. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 280:1447-1451.
101. Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmanak JF, Sheffield VC, Smith RJH. 1996. Localization of the Usher syndrome type ID gene (USH1D) to chromosome 10. Hum Molec Genet 5:1689-1692.
102. Wayne S, Lowry RB, McLeod DR, Knaus R, Farr C, Smith RJH. 1997. Localization of the Usher syndrome type IF (Ush1F) to chromosome 10 (abstract). Am J Hum Genet 61:A300.
103. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, Kelley PM, Kimberling WJ, Wagenaar M, Levi-Acobas F, Larget-Piet D, Munnich A, Steel KP, Brown SDM, Petit C. 1995. Defective myosin VIIA gene responsible for Usher syndrome type IB. Nature 374:60-61.
104. Weil D, Levy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amraoui A, Crozet F, Philippe H, Abitbol M, Petit C. 1996. Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc Natl Acad Sci USA 93: 3232-3237
105. Weil D, Kussel P, Blanchard S, Levy G, LeviAcobas F, Drira M, Ayadi H, Petit C. 1997. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin VIIA gene. Nature Genet 16:191-193.
106. Westeon MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Möller C, Jacobson SG, Gorin MB, Kimberling WJ. 1996. Myosin VIIA mutation screening in 1889 Usher syndrome type I patients. Am J Hum Genet 59:1074-1083.
107. Wolfrum U, Liu X, Schmitt A, Udovichenko IP, Williams DS. 1998. Myosin VIIa as a common component of cilia and microvilli. Cell Motil Cytoskeleton 40:261-71
108. Young NM, Johnson JC, Mets MB, Hain TC. 1995. Cochlear implants in young children with Usher's syndrome. Ann Otol Rhinol Laryngol 166:342-345.
109. Young NM, Mets MB, Hain TC. 1996. Early diagnosis ol Usher syndrome in infants and children. Am J Otol 17:30-34.
110. Zrada SE, Braat K, Doty RL, Latiees AM. 1996. Olfactory loss in Usher syndrome: another sensory deficit? Am J Med Genet 64:602-603.