#612643
Table of Contents
A number sign (#) is used with this entry because of evidence that autosomal dominant deafness-3B (DFNA3B) is caused by heterozygous mutation in the connexin-30 gene (GJB6; 604418) on chromosome 13q12. One such family has been reported.
See also DFNA3A (601544), which is caused by mutation in the connexin-26 gene (GJB2; 121011) on chromosome 13q12.
Grifa et al. (1999) reported an Italian family with autosomal dominant hearing loss. The phenotype was variable, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. The phenotype showed linkage to chromosome 13q12, but molecular analysis excluded mutations in the GJB2 gene.
The transmission pattern of DFNA3B in the family reported by Grifa et al. (1999) was consistent with autosomal dominant inheritance.
In affected members of an Italian family with autosomal dominant nonsyndromic sensorineural deafness, Grifa et al. (1999) identified a heterozygous mutation in the GJB6 gene (604418.0001).
Grifa, A., Wagner, C. A., D'Ambrosio, L., Melchionda, S., Bernardi, F., Lopez-Bigas, N., Rabionet, R., Arbones, M., Monica, M. D., Estivill, X., Zelante, L., Lang, F., Gasparini, P. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nature Genet. 23: 16-18, 1999. [PubMed: 10471490, related citations] [Full Text]
ORPHA: 90635; DO: 0110565;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 13q12.11 | Deafness, autosomal dominant 3B | 612643 | Autosomal dominant | 3 | GJB6 | 604418 |
A number sign (#) is used with this entry because of evidence that autosomal dominant deafness-3B (DFNA3B) is caused by heterozygous mutation in the connexin-30 gene (GJB6; 604418) on chromosome 13q12. One such family has been reported.
See also DFNA3A (601544), which is caused by mutation in the connexin-26 gene (GJB2; 121011) on chromosome 13q12.
Grifa et al. (1999) reported an Italian family with autosomal dominant hearing loss. The phenotype was variable, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. The phenotype showed linkage to chromosome 13q12, but molecular analysis excluded mutations in the GJB2 gene.
The transmission pattern of DFNA3B in the family reported by Grifa et al. (1999) was consistent with autosomal dominant inheritance.
In affected members of an Italian family with autosomal dominant nonsyndromic sensorineural deafness, Grifa et al. (1999) identified a heterozygous mutation in the GJB6 gene (604418.0001).
Grifa, A., Wagner, C. A., D'Ambrosio, L., Melchionda, S., Bernardi, F., Lopez-Bigas, N., Rabionet, R., Arbones, M., Monica, M. D., Estivill, X., Zelante, L., Lang, F., Gasparini, P. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nature Genet. 23: 16-18, 1999. [PubMed: 10471490] [Full Text: https://doi.org/10.1038/12612]
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