A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13

  • Hum Mol Genet. 1996 Jul;5(7):1047-50. doi: 10.1093/hmg/5.7.1047.
E N Manolis  1 ,  N Yandavi ,  J B Nadol Jr ,  R D Eavey ,  M McKenna ,  S Rosenbaum ,  U Khetarpal ,  C Halpin ,  S N Merchant ,  G M Duyk ,  C MacRae ,  C E Seidman ,  J G Seidman
Affiliations
  • 1. Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
PMID: 8817345 DOI: 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 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.