#601868
Table of Contents
A number sign (#) is used with this entry because of evidence that autosomal dominant deafness-13 (DFNA13) is caused by heterozygous mutation in the COL11A2 gene (120290) on chromosome 6p21.
Brown et al. (1997) described a family with autosomal dominant nonsyndromic postlingual hearing loss. Affected individuals experienced progressive hearing loss beginning in the second to fourth decades, eventually making use of amplification mandatory. The family was of northern European extraction living in Iowa.
In a family with autosomal dominant nonsyndromic postlingual hearing loss, Brown et al. (1997) mapped the disorder to chromosome 6p in a 4-cM interval flanked by D6S1663 and D6S1691, with a maximum 2-point lod score of 6.4 at D6S299.
In a comprehensive review of nonsyndromic hearing impairment, Van Camp et al. (1997) referred to a family with postlingual progressive hearing loss in which linkage studies mapped the locus to 6p21.3 (Brown et al., 1997). They designated the disorder DFNA13.
In an American and a Dutch family with autosomal dominant nonsyndromic nonprogressive hearing loss affecting predominantly the middle frequencies, McGuirt et al. (1999) identified heterozygosity for 2 different missense mutations in the COL11A2 gene (120290.0005 and 120290.0006, respectively).
Brown, M. R., Tomek, M. S., Van Laer, L., Smith, S., Kenyon, J. B., Van Camp, G., Smith, R. J. H. A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p. Am. J. Hum. Genet. 61: 924-927, 1997. [PubMed: 9382104, related citations] [Full Text]
McGuirt, W. T., Prasad, S. D., Griffith, A. J., Kunst, H. P. M., Green, G. E., Shpargel, K. B., Runge, C., Huybrechts, C., Mueller, R. F., Lynch, E., King, M.-C., Brunner, H. G., Cremers, C. W. R. J., Takanosu, M., Li, S.-W., Arita, M., Mayne, R., Prockop, D. J., Van Camp, G., Smith, R. J. H. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nature Genet. 23: 413-419, 1999. [PubMed: 10581026, related citations] [Full Text]
Van Camp, G., Willems, P. J., Smith, R. J. H. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am. J. Hum. Genet. 60: 758-764, 1997. [PubMed: 9106521, related citations]
ORPHA: 90635; DO: 0110545;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 6p21.32 | Deafness, autosomal dominant 13 | 601868 | Autosomal dominant | 3 | COL11A2 | 120290 |
A number sign (#) is used with this entry because of evidence that autosomal dominant deafness-13 (DFNA13) is caused by heterozygous mutation in the COL11A2 gene (120290) on chromosome 6p21.
Brown et al. (1997) described a family with autosomal dominant nonsyndromic postlingual hearing loss. Affected individuals experienced progressive hearing loss beginning in the second to fourth decades, eventually making use of amplification mandatory. The family was of northern European extraction living in Iowa.
In a family with autosomal dominant nonsyndromic postlingual hearing loss, Brown et al. (1997) mapped the disorder to chromosome 6p in a 4-cM interval flanked by D6S1663 and D6S1691, with a maximum 2-point lod score of 6.4 at D6S299.
In a comprehensive review of nonsyndromic hearing impairment, Van Camp et al. (1997) referred to a family with postlingual progressive hearing loss in which linkage studies mapped the locus to 6p21.3 (Brown et al., 1997). They designated the disorder DFNA13.
In an American and a Dutch family with autosomal dominant nonsyndromic nonprogressive hearing loss affecting predominantly the middle frequencies, McGuirt et al. (1999) identified heterozygosity for 2 different missense mutations in the COL11A2 gene (120290.0005 and 120290.0006, respectively).
Brown, M. R., Tomek, M. S., Van Laer, L., Smith, S., Kenyon, J. B., Van Camp, G., Smith, R. J. H. A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p. Am. J. Hum. Genet. 61: 924-927, 1997. [PubMed: 9382104] [Full Text: https://doi.org/10.1086/514892]
McGuirt, W. T., Prasad, S. D., Griffith, A. J., Kunst, H. P. M., Green, G. E., Shpargel, K. B., Runge, C., Huybrechts, C., Mueller, R. F., Lynch, E., King, M.-C., Brunner, H. G., Cremers, C. W. R. J., Takanosu, M., Li, S.-W., Arita, M., Mayne, R., Prockop, D. J., Van Camp, G., Smith, R. J. H. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nature Genet. 23: 413-419, 1999. [PubMed: 10581026] [Full Text: https://doi.org/10.1038/70516]
Van Camp, G., Willems, P. J., Smith, R. J. H. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am. J. Hum. Genet. 60: 758-764, 1997. [PubMed: 9106521]
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