A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13

Clinical Otolaryngology and Allied Sciences

Volumn 26, Issue 4, 2001, Pages 310-316

  Ensink, R J H ^a,c   Huygen, P L M ^a   Snoeckx, R L ^b   Caethoven, G ^b   Van Camp, G ^b   Cremers, C W R J ^a  

^a RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Autosomal dominant; DFNA13; Genetic; Hearing loss

Indexed keywords

ARTICLE; AUDIOGRAPHY; AUDITORY THRESHOLD; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; PEDIGREE; PERCEPTION DEAFNESS; PRESBYACUSIS; PRIORITY JOURNAL; RISK; VESTIBULAR FUNCTION; VESTIBULAR TEST;

AUDIOMETRY, PURE-TONE; CROSS-SECTIONAL STUDIES; DISEASE PROGRESSION; FAMILY; FEMALE; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; NETHERLANDS; PEDIGREE;

EID: 0034786566     PISSN: 03077772     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2273.2001.00477.x     Document Type: Article

References (23)

1. Mutations in COL11A2 cause non-syndromic hearing impairment (DFNA13)
2. Genes involved in deafness
3. Hereditary hearing impairment and it's syndromes
4. Nonsyndromic deafness DFNA1 associated with mutation of the human homolog of the Drosophila gene diaphanous
5. Mutations in the gene encoding gap junction protein B3 associated with autosomal dominant hearing impairment
6. KCNQ4, a novel potassium channel expressed in outer hair cells, is mutated in dominant deafness
7. Connexin 26 gene linked to a dominant deafness
8. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA 3 locus
9. Nonsyndromic hearing impairment is associated with a mutation in DFNA5
10. Mutations in human alpha-tectorin cause autosomal dominant non-syndromic hearing impairment
11. Mutations in a novel cochlear gene COCH cause DFNA9, a human nonsyndromic sensorineural deafness with vestibular dysfunction
12. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
13. Mutation in transcription factor POU4F3 associated with inherited progressive hearing impairment in humans
14. Localisation of a gene for non-syndromic hearing impairment (DFNA 5) to chromosome 7p15
15. A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing impairment maps to chromosome 14q12-13
16. A gene for autosomal dominant late onset progressive hearing impairment, DFNA, maps to chromosome 6
17. A new autosomal dominant locus (dFnA12) is responsible for a non-syndromic, mid-frequency, prelingual, non-progressive sensorineural hearing impairment
18. A novel locus for autosomal dominant nonsyndromic hearing impairment DFNA13, maps to chromosome 6p
19. Non-syndromic autosomal dominant progressive mid-frequency sensorineural hearing impairment with childhood to late adolescence onset linked to a new gene locus (DFNA21)
20. Dominant mid-frequency hearing impairment