Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family

JARO - Journal of the Association for Research in Otolaryngology

Volumn 8, Issue 1, 2007, Pages 1-7

  Plantinga, Rutger F ^a   Cremers, Cor W R J ^a   Huygen, Patrick L M ^a   Kunst, Henricus P M ^a   Bosman, Arjan J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

DFNA13; DFNA8 12; Psychophysics; Sensorineural hearing impairment; TECTA

Indexed keywords

ACOUSTIC REFLEX; ADULT; ARTICLE; ATTENUATION; AUDIOLOGY; AUDITORY THRESHOLD; AUSTRIA; BELGIUM; CLINICAL ARTICLE; COCHLEA DUCT; CONTROLLED STUDY; EVALUATION; FAMILY; FREQUENCY ANALYSIS; GENE MUTATION; HAIR CELL; HEARING; HEARING IMPAIRMENT; HUMAN; MIDDLE EAR; NOISE; OTOACOUSTIC EMISSION; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SOUND DETECTION; SOUND LEVEL METER; SPEECH PERCEPTION;

ADULT; AUDIOMETRY, PURE-TONE; AUDIOMETRY, SPEECH; AUDITORY THRESHOLD; EXTRACELLULAR MATRIX PROTEINS; FAMILY HEALTH; FEMALE; HAIR CELLS, OUTER; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; NETHERLANDS; OTOACOUSTIC EMISSIONS, SPONTANEOUS; PEDIGREE; PSYCHOPHYSICS; SPEECH PERCEPTION;

EID: 33846849469     PISSN: 15253961     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10162-006-0060-9     Document Type: Article

References (19)

1. BOSMAN AJ, SMOORENBURG GF. Intelligibility of Dutch CVC syllables and sentences for listeners with normal hearing and with three types of hearing impairment. Audiology 34:260-284, 1995.
2. DE LEENHEER EMR, BOSMAN AJ, KUNST HPM ET AL. Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family. Ann. Otol. Rhinol. Laryngol. 113:922-929, 2004.
3. HUYGEN PLM, PAUW RJ, CREMERS CWRJ. Audiometric profiles associated with genetic non-syndromic hearing impairment, a review and phenotype analysis. Audiol. Med. 2006.
4. KIRSCHHOFER K, KENYON JB, HOOVER DM ET AL. Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family. Cytogenet. Cell Genet. 82:126-130, 1998.
5. LEGAN PK, RAU A, KEEN JN ET AL. The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system. J. Biol. Chem. 272:8791-8801, 1997.
6. LEGAN PK, LUKASHKINA VA, GOODYEAR RJ ET AL. A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback. Neuron 28:273-285, 2000.
7. LEGAN PK, LUKASHKINA VA, GOODYEAR RJ ET AL. A deafness mutation isolates a second role for the tectorial membrane in hearing. Nat. Neurosci. 8:1035-1042, 2005.
8. MCGUIRT WT, PRASAD SD, GRIFFITH AJ ET AL. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat. Genet. 23:413-419, 1999.
9. MOORE BCJ. Perceptual Consequences of Cochlear Damage. 1995.
10. MOSER LM. [The Wurzburg auditory field, a test for prosthetic audiometry]. HNO 35:318-321, 1987.
11. MUSTAPHA M, CHARDENOUX S, NIEDER A ET AL. A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36. Eur. J. Hum. Genet. 6:245-250, 1998.
12. PASCOE DB. Clinical measurement of the auditory dynamic range and their relation to formulas for hearing aid gain. Proc. 13th Danavox symp.:1988.
13. PFISTER MHF, THIELE H, VAN CAMP G ET AL. A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell. Physiol. Biochem. 14:369-376, 2004.
14. PLANTINGA RF, DE BROUWER AP, HUYGEN PLM ET AL. A Novel TECTA Mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation. J. Assoc. Res. Otolaryngol. 7:173-181, 2006.
15. PLOMP R, MIMPEN AM. Improving the reliability of testing the speech reception threshold for sentences. Audiology 18:43-52, 1979.
16. SILMAN S, GELFAND SA. The relationship between magnitude of hearing loss and acoustic reflex threshold levels. J. Speech Hear. Disord. 46:312-316, 1981.
17. VAN CAMP G, SMITH RJH. Hereditary Hearing Loss Homepage. http://webhost.ua.ac.be/hhh/ Accessed June 2006.
18. VERHOEVEN K, VAN CAMP G, GOVAERTS PJ ET AL. A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24. Am. J. Hum. Genet. 60:1168-1173, 1997.
19. VERHOEVEN K, VAN LAER L, KIRSCHHOFER K ET AL. Mutations in the human alpha-tectorin gene cause autosomal dominant nonsyndromic hearing impairment. Nat. Genet. 19:60-62, 1998.