Autosomal and X-Linked Auditory Disorders - Genetics of Auditory Disorders - page 131

DFNA9 14q12-q13 COCH 6-62 Progressive SNHL to profound levels Manolis et al. 1996

by age 50 yrs; mucopolysaccharide Robertson et al. 1998

deposition in neural channels of de Kok et al. 1999

inner ear

DFNA10 6q22-q23 20-50 Progressive SNHL to moderate to O'Neill et al. 1996

severe levels

DFNA11 11p12.3-q21 MYO7A ~10 Gradually progressive SNHL to shaker1 , sh-1 Tamagawa et al. 1996

moderate levels by age 20 to 60 yrs Liu et al. 1997c

Liu et al. 1998

DFNA13 6q21 20-40 Progressive SNHL Brown et al. 1997

DFNA14 4p16 10-20 Progressive SNHL affecting low and Van Camp et al. 1999

mid frequencies

DFNA15 5q31-q33 POU4F3 ~15-20 Progressive SNHL to moderate to Brn3c Vahava et al. 1998

severe levels by 50 to 80 yrs

DFNA16 2q23-q24.3 6- Fluctuating, progressive SNHL; fidget Fukushima et al. 1998

responds to prednisone therapy

DFNA17 22q12.2- ~10 Progressive SNHL, initially affects Lalwani et al. 1997

q13.3 high frequencies; cochleosaccular Lalwani et al. 1999

degeneration

DFNA18 3q24 Congenital Progressive SNHL to mild to Boensch et al. 1998

moderate levels

DFNA20 17q25 11-30 Progressive SNHL; initially affects Morell et al. 2000

high frequencies, then mid-high
frequencies; low frequencies near
normal at age 40 yr

DFNA23 14q21-q22 Prelingual MHL in 50% of affected members; Salam et al. 1999

stable in the majority of affecteds;
moderate to profound loss in high
frequencies

DFNA24 4q35-qter Prelingual Stable SNHL in mid-high frequencies Hafner et al. 2000

OTS 15q25-q26 ~30 Progressive CHL; MHL in 10% of Cartilage matrix Tomek et al. 1998

otosclerosis affected individuals deficiency, cmd

a DFNA2 and DFNA3 are examples of locus heterogeneity (i.e., more than one deafness gene in a genetic map interval); underlined mouse mutant strain
is known to be the orthologue of the human locus, otherwise mouse model is speculative. SNHL, Sensorineural hearing loss; CHL, conductive hearing loss;
MHL, mixed hearing loss; dBHL, decibels hearing loss. DFNA loci published in peer-review journals are included in this table.