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Making Sense of Nonsyndromic Deafness
Arch Otolaryngol Head Neck Surg. 2003;129:405-406.
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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
These discoveries are truly monumental in their impact. They are changing both our understanding of the biology of hearing and deafness and the clinical management of deafness. Already, genetic screening of GJB2 is offered in many centers worldwide. Because mutations in this gene . . . [Full Text of this Article]
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Marci M. Lesperance, James W. Hall, III, Theresa B. San Agustin, and Suzanne M. Leal
Arch Otolaryngol Head Neck Surg. 2003;129(4):411-420.
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