Hereditary otovestibular dysfunction and Ménière's disease in a large Belgian family is caused by a missense mutation in the COCH gene

Otology and Neurotology

Volumn 22, Issue 6, 2001, Pages 874-881

  Verstreken, M ^a   Declau, F ^a   Wuyts, F L ^a   D'Haese, P ^a   Van Camp, G ^a   Fransen, E ^a   Van Den Hauwe, L ^b   Buyle, S ^c   Smets, R E M ^b   Feenstra, L ^d   Van Der Stappen, A ^a   Van Des Heyning, P H ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c Department of Neurology ^*  (Belgium)

^d UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Autosomal dominant inheritance; COCH gene; DFNA9 gene; Hereditary otovestibular dysfunction; M ni re's disease

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BELGIUM; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; FAMILY STUDY; GENE; GENE LOCUS; GENETIC DISORDER; HUMAN; MAJOR CLINICAL STUDY; MENIERE DISEASE; MISSENSE MUTATION; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; VESTIBULAR DISORDER;

EID: 0035180714     PISSN: 15317129     EISSN: None     Source Type: Journal    
DOI: 10.1097/00129492-200111000-00028     Document Type: Article

References (25)

1. Nonsyndromic hearing impairment: Unparalleled heterogeneity
2. A gene for nonsyndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13
3. Autosomal dominant sensorineural hearing loss: Further temporal bone findings
4. Autosomal dominant sensorineural hearing loss: Pedigrees, audiologic findings, and temporal bone findings in two kindreds
5. Mutations in a novel cochlear gene COCH cause DFNA9, a human non-syndromic sensorineural deafness with vestibular dysfunction
6. High prevalence of symptoms of Ménière's disease in three families with a mutation in the COCH gene
7. A Pro51Ser mutation in the COCH gene is associated with late-onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
8. Occurrence of episodic vertigo and hearing loss in families
9. Ménière's disease as an autosome dominant hereditary disease
10. Vestibular function and deafness: Results from the European Work Group on Genetics Impairment
11. Background and technique of caloric testing
12. Computerized electronystagmography: Normative data revisited
13. Guidelines for the diagnosis and evaluation of therapy in Ménière's disease
14. Speech audiometry for differential diagnosis
15. Diagnostic significance of PB word functions
16. Performance intensity functions in cochlear and eight nerve disorders
17. Cochlear implant histopathology
18. Familial progressive vestibulocochlear dysfunction
19. Familial progressive vestibulocochlear dysfunction
20. Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9
21. Hereditary vestibulo-cochlear dysfunction and vascular disorders