Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3

Audiology and Neurotology

Volumn 14, Issue 5, 2009, Pages 303-307

  Van Drunen, F J Wendy ^a   Pauw, Robert J ^a   Collin, Rob W J ^a   Kremer, Hannie ^a   Huygen, Patrick L M ^a   Cremers, Cor W R J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cochleovestibular disorder; DFNA15; Genetic deafness; Nonsyndromic autosomal dominant hearing impairment; POU4F3

Indexed keywords

ADULT; AGED; AREFLEXIA; ARTICLE; CALORIC VESTIBULAR TEST; CLINICAL ARTICLE; DNFA15; ELECTRONYSTAGMOGRAPHY; FEMALE; GENE MUTATION; HUMAN; MALE; NETHERLANDS; PRIORITY JOURNAL; ROTATION; VESTIBULAR DISORDER;

ADOLESCENT; ADULT; AGED; FAMILY HEALTH; FEMALE; GENES, DOMINANT; HEARING LOSS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; NYSTAGMUS, OPTOKINETIC; PEDIGREE; POINT MUTATION; PURSUIT, SMOOTH; REFLEX, ABNORMAL; REFLEX, VESTIBULO-OCULAR; SACCADES; TRANSCRIPTION FACTOR BRN-3C; VESTIBULAR DISEASES;

EID: 64549105619     PISSN: 14203030     EISSN: 14219700     Source Type: Journal    
DOI: 10.1159/000212109     Document Type: Article

References (26)

1. Bischoff AMLC, Huygen PLM, Kemperman MH, Pennings RJE, Bom SJH, Verhagen WIM, Admiraal RJC, Kremer H, Cremers CWRJ: Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers. Otol Neurotol 2005; 26: 918-925. (Pubitemid 41330707)
2. Bischoff AMLC, Pennings RJE, Huygen PLM, Luijendijk MW, van WE, Cruysberg JRM, Kremer H, Cremers CWRJ: Cochleovestibular and ocular features in a Dutch DFNA11 family. Otol Neurotol 2006; 27: 323-331. (Pubitemid 43772454)
3. Bles W, de Jong JM, de Wit G: Somatosensory compensation for loss of labyrinthine function. Acta Otolaryngol 1984; 97: 213-221. (Pubitemid 14194523)
4. Collin RWJ, Chellappa R, Pauw RJ, Vriend F, Oostrik J, van Drunen FJW, Huygen PLM, Admiraal RJC, Hoefsloot LH, Cremers FPM, Xiang M, Cremers CWRJ, Kremer H: Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum Mutat 2008; 29: 545-554.
5. Erkman L, McEvilly RJ, Luo L, Ryan AK, Hooshmand F, O'Connell SM, Keithley EM, Rapaport DH, Ryan AF, Rosenfeld MG: Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development. Nature 1996; 381: 603-606. (Pubitemid 26177475)
6. Fernandez C, Goldberg JM: Physiology of peripheral neurons innervating semicircular canals of the squirrel monkey. II. Response to sinusoidal stimulation and dynamics of peripheral vestibular system. J Neurophysiol 1971; 34: 661-675.
7. Frydman M, Vreugde S, Nageris BI, Weiss S, Vahava O, Avraham KB: Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor. Arch Otolaryngol Head Neck Surg 2000; 126: 633-637. (Pubitemid 30252936)
8. Huygen PLM, Nicolasen MGM: Diagnostic value of velocity-step responses. ORL J Otorhinolaryngol Relat Spec 1985; 47: 249-261.
9. Kemperman MH, De Leenheer EM, Huygen PLM, van Duijnhoven DG, Morton CC, Robertson NG, Cremers FPM, Kremer H, Cremers CWRJ: Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation. Otol Neurotol 2005; 26: 926-933. (Pubitemid 41330708)
10. Kunst HPM, Huybrechts C, Marres H, Huygen PLM, Van Camp G, Cremers CWRJ: The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment. Am J Otol 2000; 21: 181-187. (Pubitemid 30137072)
11. Nijhuis BG, Huygen PLM: Single-response variability of air and water caloric reactions. ORL J Otorhinolaryngol Relat Spec 1980; 42: 196-205.
12. Pauw RJ, Collin RWJ, Huygen PLM, Hoefsloot LH, Kremer H, Cremers CWRJ: Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W. Audiol Neurootol 2007a;12: 77-84. (Pubitemid 46207854)
13. Pauw RJ, Huygen PLM, Collin RWJ, Cruysberg JRM, Hoefsloot LH, Kremer H, Cremers CWRJ: Phenotype description of a novel DFNA9/COCH mutation, I109T. Ann Otol Rhinol Laryngol 2007b;116: 349-357. (Pubitemid 46789674)
14. Pauw RJ, van Drunen FJW, Collin RWJ, Huygen PLM, Kremer H, Cremers CWRJ: Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3 . Arch Otolaryngol Head Neck Surg 2008; 134: 294-300.
15. Tamagawa Y, Ishikawa K, Ishikawa K, Ishida T, Kitamura K, Makino S, Tsuru T, Ichimura K: Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation. Laryngoscope 2002; 112: 292-297. (Pubitemid 34135875)
16. Theunissen EJJM, Huygen PLM, Folgering HT: Vestibular hyperreactivity and hyperventilation. Clin Otolaryngol Allied Sci 1986; 11: 161-169.
17. Theunissen EJJM, Huygen PLM, Folgering HT, Nicolasen MGM: The velocity step test: its use in the evaluation of the effects of drugs in dizzy patients. Acta Otolaryngol Suppl 1988; 460: 104-113.
18. Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB: Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 1998; 279: 1950-1954. (Pubitemid 28168652)
19. Van Camp G, Smith RJH: Hereditary hearing loss homepage. 2006. http://webhost.uia. ac.be/hhh/.
20. Verhagen WIM, Huygen PLM, Bles W: A new autosomal dominant syndrome of idiopathic progressive vestibulo-cochlear dysfunction with middle-age onset. Acta Otolaryngol 1992a;112: 899-906.
21. Verhagen WIM, Huygen PLM, Joosten EMG: Familial progressive vestibulocochlear dysfunction. Arch Neurol 1988; 45: 766-768.
22. Verhagen WIM, ter Bruggen JP, Huygen PLM: Oculomotor, auditory, and vestibular responses in myotonic dystrophy. Arch Neurol 1992b;49: 954-960.
23. Weiss S, Gottfried I, Mayrose I, Khare SL, Xiang M, Dawson S, Avraham KB: The DFNA 15 deafness mutation affects Pou4F3 protein stability, localization and transcriptional activity. Mol Cell Biol 2003; 23: 7957-7964. (Pubitemid 37377489)
24. Xiang M, Gan L, Li D, Chen ZY, Zhou L, O'Malley BW Jr, Klein W, Nathans J: Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development. Proc Natl Acad Sci USA 1997; 94: 9445-9450. (Pubitemid 27357849)
25. Xiang M, Gao WQ, Hasson T, Shin JJ: Requirement for Brn-3c in maturation and survival, but not in fate determination of inner ear hair cells. Development 1998; 125: 3935-3946. (Pubitemid 28515432)
26. Xiang M, Maklad A, Pirvola U, Fritzsch B: Brn3c null mutant mice show long-term, incomplete retention of some afferent inner ear innervation. BMC Neurosci 2003; 4: 2. (Pubitemid 38729177)