A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.
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.
Manolis
E N
EN
Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
Yandavi
N
N
Nadol
J B
JB
Eavey
R D
RD
McKenna
M
M
Rosenbaum
S
S
Khetarpal
U
U
Halpin
C
C
Merchant
S N
SN
Duyk
G M
GM
MacRae
C
C
Seidman
C E
CE
Seidman
J G
JG
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