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
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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