De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss

Human Genetics

Volumn 108, Issue 3, 2001, Pages 269-270

  Janecke, A R ^a   Nekahm, D ^a   Loffler J ^a   Hirst Stadlmann, A ^a   Muller T ^a   Utermann, G ^a  

^a UNIVERSITY OF INNSBRUCK   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONTROLLED STUDY; DIAGNOSTIC ERROR; GENE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; KERATODERMA; MALE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT SURVEY;

AMINO ACID SUBSTITUTION; CHILD; CONNEXINS; DNA; DNA MUTATIONAL ANALYSIS; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MUTATION; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0035067680     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100484     Document Type: Article

References (9)

1. Epidemiology, aetiology and genetic patterns
2. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis
3. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
4. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
5. Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
6. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
7. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma