Autosomal and X-Linked Auditory Disorders - Genetics of Auditory Disorders - page 130

TABLE 6.1. Nonsyndromic autosomal dominant deafness loci (DFNA)
Gene

Onset of Hearing

Locus Location (see Table 6.4) Loss (yr) Phenotype/Comments Mouse Model Selected References

DFNA1 5q31 HDIA1 ~10 Progressive SNHL to profound sy Leon et al. 1981

levels by age 40 yrs; initially Leon et al. 1992

affects low frequencies

DFNA2 a 1p34-p35 GJB3 ( Cx31 ) Variable, 10-30 Progressive SNHL; 30 to >55 dBHL Coucke et al. 1994

by age 30 to 40 yrs; initially affects Van Camp et al. 1997

high frequencies Coucke et al. 1999

Liu et al. 2000

etc . Xia et al. 1998

1p34 KCNQ4 Variable, Progressive SNHL of 1 dB/yr, initially Coucke et al. 1999

congenital; 10 affects high frequencies Kubisch et al. 1999

DFNA3 a 13q12 GJB2 ( Cx26 ) Approximately 4 All frequencies affected, stable or Gjb2 knockout Chaib et al. 1994

(see DFNB1) slowly progressive SNHL; 50% Denoyelle et al. 1997

profound, 50% with 70 to 100 dBHL Gabriel et al. 1998

13q12 GJB6 ( Cx30 ) 20-40 Mild to moderate progressive SNHL, Grifa et al. 1999

initially affects high frequencies in
a small family

DFNA4 19q13 20-30 Fluctuating, progressive SNHL to quivering , qv Chen et al. 1995

profound levels by fourth decade;
all frequencies affected

DFNA5 7p15 DFNA5 20-30 Progressive SNHL; initially affects Van Laer et al. 1997

5-15 high frequencies Van Laer et al. 1998

DFNA6 4p16.3 5-15 Progressive SNHL to 40 to 50 dBHL tilted , tlt Lesperance et al. 1995

by 15 yrs; initially affects low
frequencies

DFNA7 1q21-q23 6-15 Progressive SNHL to >45 dBHL by Fagerheim et al. 1996

15 yrs; initially affects high
frequencies

DFNA8/12 11q22-24 TECTA Prelingual, early Stable mild-severe SNHL Verhoeven et al. 1997

(see DFNB21) childhood Balciuniene et al. 1998

Verhoeven et al. 1998