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Commentary
April 2003

Making Sense of Nonsyndromic Deafness

Arch Otolaryngol Head Neck Surg. 2003;129(4):405-406. doi:10.1001/archotol.129.4.405

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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