Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese

Journal of Human Genetics

Volumn 46, Issue 7, 2001, Pages 355-361

  Akita, J ^a   Abe, S ^a   Shinkawa, H ^a   Kimberling, W J ^b   Usami, S ^c  

^a HIROSAKI UNIVERSITY   (Japan)

^b BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^c SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Autosomal dominant; GJB3; KCNQ4; MYO7A; Nonsyndromic hearing loss

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; GENE; GENE GJB3; GENE KCNQ4; GENE MUTATION; GENE MYO7A; GENETIC ANALYSIS; HUMAN; JAPAN; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS;

ADOLESCENT; ADULT; AGED; AUDIOMETRY; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONNEXINS; DNA MUTATIONAL ANALYSIS; DYNEIN ATPASE; EXONS; FEMALE; GENES, DOMINANT; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; JAPAN; KCNQ POTASSIUM CHANNELS; MALE; MIDDLE AGED; MUTATION; MYOSINS; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED;

EID: 0034937052     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380170053     Document Type: Article

References (23)

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5. Prelingual deafness: High prevalence of a 30 delG mutation in the connexin 26 gene
6. A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3
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9. - channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway
10. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
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14. Connexin 26 mutations associated with nonsyndromic hearing loss
15. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
16. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss
17. A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene
18. + ion recycling in the inner ear
19. + channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region
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22. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin VIIA gene
23. Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment