A New Locus for Late-Onset, Progressive, Hereditary Hearing Loss DFNA20 Maps to 17q25

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• 作者：Morell ; Robert J. ; Friderici ; Karen H. ; Wei ; Sainan ; Elfenbein ; Jill L. ; Friedman ; Thomas B. ; et. al.
• 刊名：Genomics
• 出版年：2000
• 出版时间：January 1, 2000
• 年：2000
• 卷：63
• 期：1
• 页码：1-6
• 全文大小：101 K

文摘

We report the localization of DFNA20, a gene causing dominant, nonsyndromic, progressive hearing loss in a three-generation Midwestern family, to chromosome 17q25. Affected family members show a bilateral, sloping, progressive, sensorineural hearing loss, first evident at 6000 and 8000 Hz, that can be identified in some family members in the early teens and is clearly evident by the early twenties. As age increases, the degree of hearing loss increases with threshold shifts seen at all frequencies. Linkage to known hereditary hearing loss loci was excluded. A genome-wide screen detected positive linkage to D17S784 (LOD(Z) = 6.62; θ = 0). Haplotype analysis refines the DFNA20 critical region to 12 cM between D17S1806 and D17S668. Radiation hybrid mapping with Stanford G3 and TNG panels was used to evaluate the genes ACTG1, GRIN2C, FKHL13, P4HB, SPARC, and ARHGDIA as candidates for DFNA20.