Modamio-Hoybjor et al. (2004) identified a large Spanish family postlingual, progressive, nonsyndromic all-frequency hearing loss inherited in an autosomal dominant pattern. Of 74 family members, 37 were affected. The earliest clinical evidence of hearing loss in the family ... Modamio-Hoybjor et al. (2004) identified a large Spanish family postlingual, progressive, nonsyndromic all-frequency hearing loss inherited in an autosomal dominant pattern. Of 74 family members, 37 were affected. The earliest clinical evidence of hearing loss in the family was obtained for 2 subjects at the age of 12 years. Hearing loss was initially mild, affecting all frequencies, and progressed to severe or profound in the seventh decade. Mencia et al. (2009) identified a second family with autosomal dominant progressive hearing loss. Middle and high frequencies were affected. Onset of hearing loss was earlier than in the family studied by Modamio-Hoybjor et al. (2004), beginning at 2 to 3 years of age in the proband, with progression to a severe form in the third decade.
In 2 families with autosomal dominant nonsyndromic hearing loss, Mencia et al. (2009) identified 2 independent point mutations in the seed region of MIRN96 (611606) as the cause of the disorder. This was the first study to implicate ... In 2 families with autosomal dominant nonsyndromic hearing loss, Mencia et al. (2009) identified 2 independent point mutations in the seed region of MIRN96 (611606) as the cause of the disorder. This was the first study to implicate a miRNA in a mendelian disorder.