Salam et al. (2000) studied DNA samples from 22 members of a Swiss-German kindred in 3 generations: 10 with hearing impairment, 8 unaffected, and 4 spouses of hearing-impaired pedigree members. The hearing-impaired family members had prelingual bilateral symmetric ... Salam et al. (2000) studied DNA samples from 22 members of a Swiss-German kindred in 3 generations: 10 with hearing impairment, 8 unaffected, and 4 spouses of hearing-impaired pedigree members. The hearing-impaired family members had prelingual bilateral symmetric hearing loss. All audiograms from the hearing-impaired individuals displayed sloping curves, with hearing ability ranging from normal hearing to mild hearing loss in low frequencies, normal hearing to profound hearing loss in mid-frequencies, and moderate to profound hearing loss in high frequencies. A conductive component existed for 50% of the hearing-impaired family members. Most of the hearing-impaired family members did not display progression of hearing loss.
In an affected member of the family reported by Salam et al. (2000), Ruf et al. (2004) identified a mutation in the SIX1 gene (601205.0003). The patient was also found to have a solitary left hypodysplastic kidney with ... In an affected member of the family reported by Salam et al. (2000), Ruf et al. (2004) identified a mutation in the SIX1 gene (601205.0003). The patient was also found to have a solitary left hypodysplastic kidney with vesicoureteral reflux and progressive renal failure, suggesting that this family may have BOR/BO syndrome (see 608389).