Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family

Annals of Otology, Rhinology and Laryngology

Volumn 111, Issue 3, 2002, Pages 267-274

  De Leenheer, Els M R ^a   Huygen, Patrick L M ^c   Coucke, Paul J ^c   Admiraal, Ronald J C ^c   Van Camp, Guy ^c   Cremers, Cor W R J ^c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c NONE

Author keywords

Autosomal dominance; DFNA2; KCNQ4; Sensorineural hearing impairment; Speech recognition; Vestibule

Indexed keywords

GENE PRODUCT; PROTEIN DFNA2; PROTEIN KCNQ4; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUDITORY THRESHOLD; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; FAMILIAL DISEASE; FEMALE; GENETIC LINKAGE; HUMAN; LINEAR REGRESSION ANALYSIS; LONGITUDINAL STUDY; MALE; MISSENSE MUTATION; MOTION SICKNESS; NETHERLANDS; NONLINEAR SYSTEM; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SPEECH DISCRIMINATION; VESTIBULOOCULAR REFLEX;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; AUDIOMETRY; AUDITORY THRESHOLD; CHILD; CHROMOSOME MAPPING; CROSS-SECTIONAL STUDIES; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; KCNQ POTASSIUM CHANNELS; LINEAR MODELS; LINKAGE (GENETICS); LONGITUDINAL STUDIES; MALE; MIDDLE AGED; MUTATION, MISSENSE; NETHERLANDS; NONLINEAR DYNAMICS; PEDIGREE; PHENOTYPE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; VESTIBULAR FUNCTION TESTS;

EID: 0036123214     PISSN: 00034894     EISSN: None     Source Type: Journal    
DOI: 10.1177/000348940211100312     Document Type: Article

References (21)

1. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families
2. Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p
3. Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment
4. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
5. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss
6. +channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region
7. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
8. +ion recycling in the inner ear
9. DFNA/KCNQ4 and its manifestations
10. Nystagmometry; the art of measuring nystagmus parameters by digital signal processing
11. Vestibular hyperreactivity in patients with multiple sclerosis
12. Oculomotor and vestibular anomalies in Pelizæus-Merzbacher disease: A study on a kindred with 2 affected and 3 normal males, 3 obligate and 8 possible carriers
13. Vestibular hyperreactivity and hyperventilation
14. Nonsyndromic autosomal dominant progressive sensorineural hearing loss: Audiologic analysis of a pedigree linked to DFNA2
15. Autosomal dominant non-syndromal progressive sensorineural hearing impairment: Audiological evaluation of a Dutch DFNA2 family
16. A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region
17. Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2
18. +channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway
19. How well do we understand the cochlea?