A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12–13
EN Manolis, N Yandavi, JB Nadol Jr… - Human Molecular …, 1996 - academic.oup.com
EN Manolis, N Yandavi, JB Nadol Jr, RD Eavey, M McKenna, S Rosenbaum, U Khetarpal…
Human Molecular Genetics, 1996•academic.oup.comWe 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) …
(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) …
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.
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