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

E N Manolis; 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

doi:10.1093/hmg/5.7.1047

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.

Authors

E N Manolis¹, 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

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Age of Onset
Cell Line
Chromosome Mapping*
Chromosomes, Human, Pair 14 / genetics*
Female
Genes, Dominant / genetics*
Haplotypes
Hearing Loss, Sensorineural / genetics*
Hearing Loss, Sensorineural / physiopathology
Humans
Lod Score
Lymphocytes
Male
Middle Aged
Pedigree