Deafness, Autosomal Dominant 13

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.

Clinical Features

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.

Mapping

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.

Molecular Genetics

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).