2. Academic Validation
  3. A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13

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

Affiliation

  • 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.

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