Refinement of the locus for non-syndromic sensorineural deafness (DFN2).
Non-syndromic X-linked deafness is a rare form of genetic deafness in humans accounting for a small proportion of all hereditary hearing loss. Different clinical forms of non-syndromic X-linked deafness have been described, and most of these have been mapped. Here, we report a Chinese family affected by a congenital profound sensorineural hearing loss. All phenotypes of this family are clinically compatible with non-syndromic sensorineural deafness (DFN2). A maximum two-point Lod score of 2.32 was obtained at marker DXS6797 (theta = 0.00). Recombinants define a region of 4.3 cM flanked by markers DXS6799 and GATA172D05. This region overlaps the previously reported DFN2 region by 2.0 cM.
Cui
Bin
B
Health Science Center, Shanghai Institutes for Biological Sciences, Shanghai Second Medical University, 225 South Chong Qing Road, Shanghai 200025, People's Republic of China.
Zhang
Haibing
H
Lu
Yongzhong
Y
Zhong
Wei
W
Pei
Gang
G
Kong
Xiangyin
X
Hu
Landian
L
D001301:Audiometry, Pure-Tone; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic
D005819:Genetic Markers