Deafness, Autosomal Dominant 31

Clinical Features

Ensink et al. (2001) reported a large 4-generation Dutch family with nonsyndromic progressive mid- to high-frequency sensorineural hearing loss. Most of those affected presented with hearing impairment after 30 years of age, but hearing impairment was noted at about 10 years of age in 2. After correction for presbycusis, hearing impairment was most marked at 1 to 2 kHz and showed an annual progression of 0.8 dB per year. Vestibular function was intact.

Inheritance

The transmission pattern of nonsyndromic hearing loss in the Dutch family reported by Ensink et al. (2001) was consistent with autosomal dominant inheritance.

Mapping

Ensink et al. (2001) stated that linkage analysis in the Dutch family they reported with postlingual progressive nonsyndromic hearing loss mapped the phenotype to the DFNA13 locus (601868). However, by linkage analysis in this family, in which no mutations were found in the COL11A2 gene (120290), Snoeckx et al. (2004) identified a novel dominant locus for postlingual nonsyndromic sensorineural hearing loss (DFNA31). The DFNA31 locus is located in a 7.5-cM region of 6p21.3, telomeric to the DFNA13 locus. DNA sequencing of coding regions and exon/intron boundaries of 2 candidate genes in this interval, POU5F1 (164177) and GABBR1 (603540), revealed no disease-causing mutations.