Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13)

Archives of Otolaryngology - Head and Neck Surgery

Volumn 127, Issue 1, 2001, Pages 13-17

  De Leenheer, E M R ^a   Kunst, H P M ^a   McGuirt, W T ^a   Prasad, S D ^a   Brown, M R ^a   Huygen, P L M ^a   Smith, R J H ^a   Cremers, C W R J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUDIOMETRY; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; FAMILY STUDY; GENE LOCUS; HEARING IMPAIRMENT; HUMAN; MISSENSE MUTATION; PHENOTYPE;

EID: 0035148222     PISSN: 08864470     EISSN: None     Source Type: Journal    
DOI: 10.1001/archotol.127.1.13     Document Type: Article

References (23)

1. Genes responsible for human hereditary deafness: Symphony of a thousand
2. Defective myosin VIIA gene responsible for Usher syndrome type IB
3. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
4. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
5. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
6. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
7. A mutation in PDS causes non-syndromic recessive deafness
8. A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p
9. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
10. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene
11. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
12. Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous
13. 2(XI) chain of type XI collagen
14. Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation
15. Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)
16. The phenotype of DFNA13/COL11A2: Non-syndromic autosomal dominant mid- and high-frequency sensorineural hearing impairment
17. Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: Localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family
18. A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and non-progressive sensorineural hearing loss
19. Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment