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Commentary |

Making Sense of Nonsyndromic Deafness

Richard J. H. Smith, MD; Patrick L. M. Huygen, PhD
Arch Otolaryngol Head Neck Surg. 2003;129(4):405-406. doi:10.1001/archotol.129.4.405.
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IN 1992, León et al1 mapped the first nonsyndromic deafness locus to chromosome 5q31 in a large kindred from Costa Rica, segregating autosomal dominant postlingual deafness that begins as a low-frequency loss at about age 10 years and progresses to involve all frequencies by age 30 years. Five years later, Lynch et al2 identified a protein-truncating mutation in the causative gene HDIA1, the human homologue of the Drosophila gene diaphanous. As of September 2002, 41 dominant (DFNA + integer), 33 recessive (DFNB + integer) and 8 X-linked (DFN + integer) deafness loci have been mapped and 29 different deafness-related genes have been cloned.3

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Selection of audioprofiles associated with autosomal dominant nonsyndromic loci showing age in decade steps. Asterisk indicates that the audioprofile has been obtained by averaging threshold data derived from several families; other audioprofiles pertain to a single family. (For original data sources and method descriptions, see Cremers and Smith,8 Pennings et al,9 and Huygen et al.10)

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