title: A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.
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.
authors.affiliation: Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
authors.forename: E N
authors.initials: EN
authors.lastname: Manolis
authors.forename: N
authors.initials: N
authors.lastname: Yandavi
authors.forename: J B
authors.initials: JB
authors.lastname: Nadol
authors.forename: R D
authors.initials: RD
authors.lastname: Eavey
authors.forename: M
authors.initials: M
authors.lastname: McKenna
authors.forename: S
authors.initials: S
authors.lastname: Rosenbaum
authors.forename: U
authors.initials: U
authors.lastname: Khetarpal
authors.forename: C
authors.initials: C
authors.lastname: Halpin
authors.forename: S N
authors.initials: SN
authors.lastname: Merchant
authors.forename: G M
authors.initials: GM
authors.lastname: Duyk
authors.forename: C
authors.initials: C
authors.lastname: MacRae
authors.forename: C E
authors.initials: CE
authors.lastname: Seidman
authors.forename: J G
authors.initials: JG
authors.lastname: Seidman
mesh_terms: D000328:Adult; D017668:Age of Onset; D002460:Cell Line; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008126:Lod Score; D008214:Lymphocytes; D008297:Male; D008875:Middle Aged; D010375:Pedigree