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A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome
E N Manolis1, N Yandavi, J B Nadol
1Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
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 approximately 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, theta = 0). Haplotype analysis of recombination events defined a 9 cM disease interval, between D14S252 and D14S49.