A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13
Open Access
- 1 July 1996
- journal article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 5 (7) , 1047-1050
- https://doi.org/10.1093/hmg/5.7.1047
Abstract
We report a novel locus responsible for postlingual progressive sensorineural hearing loss (designated DFNA9) that maps to chromosome 14q12–13. A large kindred with autosomal dominant transmission of non-syndromic hearing loss was clinically studied. Hearing in affected individuals deteriorated at ∼20 years of age and progressed to anacusis in the fifth decade. A random genome-wide search using polymorphic short tandem repeats demonstrated linkage with D14S121 (maximum two point LOD score = 6.19, θ=0). Haplotype analysis of recombination events defined a 9 cM disease interval, between D14S252 and D14S49.Keywords
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