Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene

Otology and Neurotology

Volumn 24, Issue 1, 2003, Pages 58-63

  Pennings, Ronald J E ^a   Huygen, Patrick L M ^a   Weston, Michael D ^b   Van Aarem, Annelies ^a   Wagenaar, Mariette ^a   Kimberling, William J ^b   Cremers, Cor W R J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

Author keywords

Genetic hearing impairment; USH2A gene; Usher syndrome Type IIa

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUDITORY THRESHOLD; CLINICAL ARTICLE; DISEASE COURSE; FEMALE; GENE; GENE MUTATION; GENETIC DISORDER; HEARING IMPAIRMENT; HUMAN; LINEAR REGRESSION ANALYSIS; MALE; NETHERLANDS; PHONEME; PRESBYACUSIS; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SPEECH DISCRIMINATION; USH2A GENE;

ADOLESCENT; ADULT; AUDIOMETRY, PURE-TONE; AUDITORY THRESHOLD; CHROMOSOME MAPPING; CROSS-SECTIONAL STUDIES; DISEASE PROGRESSION; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE DETECTION; HUMANS; LINEAR MODELS; MALE; MIDDLE AGED; MUTATION; PHONETICS; PRESBYCUSIS; RETINITIS PIGMENTOSA; SPEECH DISCRIMINATION TESTS; SYNDROME;

EID: 0037261368     PISSN: 15317129     EISSN: None     Source Type: Journal    
DOI: 10.1097/00129492-200301000-00013     Document Type: Article

References (28)

1. Von Graefe A. Vereinzelte Beobachtungen und Bemerkungen: Exceptionelles Verhalten des Gesichtsfeldes bei Pigmentenartung der Netzhaut. Von Graefe's Arch Ophthalmol 1858;4:250-3.
2. Usher CH. The Bowman lecture: on a few hereditary eye affections. Trans Ophthalmol Soc UK 1935;55:164-70.
3. Bell J. Retinitis pigmentosa and allies diseases. In: Pearson K, ed. The Treasury of Human Inheritance. London: Cambridge Press, 1922;2-19.
4. Davenport SLH, Omenn GS. The heterogeneity of Usher syndrome [abstract]. In: Littlefield JW, Ebbing FJG, Henderson JW, eds. Fifth International Conference on Birth Defects. Amsterdam: Excerpta Medica 1977:87-88.
5. Kimberling WJ, Möller C. Clinical and molecular genetics of Usher syndrome. J Am Acad Audiol 1995;6:63-72.
6. Kimberling WJ, Weston MD, Möller C, et al. Localization of Usher syndrome type II to chromosome 1q. Genomics 1990;7:245-9.
7. Eudy JD, Weston MD, Yao S, et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 1998;280:1753-7.
8. Meyer DH, Piazza L, Fishman GA. Evaluation of pure tone and speech discrimination changes in Usher's syndrome. Ann Otol Rhinol Laryngol 1989;98:364-8.
9. Kumar A, Fishman G, Torok N. Vestibular and auditory function in Usher's syndrome. Ann Otol Rhinol Laryngol 1984;93:600-8.
10. van Aarem A, Huygen PLM, Pinckers AJLG, et al. Stable and progressive hearing loss in type 2A Usher syndrome. Ann Otol Rhinol Laryngol 1996;105:962-7.
11. Wagenaar M, van Aarem A, Huygen PLM, Pieke-Dahl S, Kimberling WJ, Cremers CWRJ. Hearing impairment related to age in Usher syndrome type 1B and 2A. Arch Otolaryngol Head Neck Surg 1999;125:441-5.
12. Marres HAM, van Ewijk M, Huygen PLM, et al. Inherited nonsyndromic hearing loss: an audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2. Arch Otolaryngol Head Neck Surg 1997;123:573-7.
13. Van Aarem A, Wagenaar M, Pinckers AJLG, Kimberling WJ, Cremers CWRJ. Ophthalmologic findings in Usher syndrome type 2A. Ophthalmic Genet 1995;16:151-8.
14. International Organization for Standardization. ISO 389: Acoustics: Standard Reference Zero for the Calibration of Pure Tone Air Conduction Audiometers. Geneva: International Organization for Standardization, 1985.
15. International Organization for Standardization. ISO 8253-1: Acoustics: Audiometric Test Methods, I: Basic Pure Tone Air and bone-conduction threshold Audiometry. Geneva: International Organization for Standardization, 1989.
16. International Organization for Standardization. ISO 7029: Acoustics: Threshold of Hearing by Air Conduction as a Function of Age and Sex for Otologically Normal Persons. Geneva: International Organization for Standardization, 1984.
17. Dreyer B, Tranebjærg L, Brox V, et al. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet 2001;69:228-34.
18. Weston MD, Eudy JD, Fujita S, et al. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet 2000;66:1199-210.
19. Liu X-Z, Walsh J, Tamagawa Y, et al. Autosomal dominant nonsyndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 1997;17:268-9.
20. Liu X-Z, Walsh J, Mburu P, et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 1997;16:188-90.
21. Bork JM, Peters LM, Riazuddin S, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet 2001;68:26-37.
22. Rivolta C, Sweklo EA, Berson EL, Dryja TP. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing impairment. Am J Hum Genet 2000;66:1975-8.
23. Bom SJH, De Leenheer EMR, Lemaire FX, et al. Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH. Arch Otolaryngol Head Neck Surg 2001;127:1045-8.
24. De Leenheer EM, van Zuijlen, Van Laer L, et al. Further delineation of the DFNA5 phenotype: results of speech recognition tests. Ann Otol Rhinol Laryngol 2002;111:639-41.
25. Kubisch C, Schroeder B, Friedrich T, Lütjohann B, Petit C, Jentsch TJ. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 1999;96:437-46.
26. Beisel KW, Nelson NC, Delimont DC, Fritzsch B. Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2. Molec Brain Res 2000;82:137-49.
27. Nobili R, Mammano F, Ashmore J. How well do we understand the cochlea? Trends Neurosci 1998;21:159-67.
28. Robertson NG, Resendes BL, Lin JS, et al. Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. Hum Molec Genet 2001;10:2493-500.