Autosomal and X-Linked Auditory Disorders - Genetics of Auditory Disorders - page 134

TABLE 6.2. Nonsyndromic autosomal recessive deafness loci (DFNB)
Gene Onset of

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

DFNB1 13q12 GJB2 ( Cx26 ) Congenital to late Progressive SNHL, mild to profound Gjb2 knockout Guilford et al. 1994a

onset Brown et al. 1996

DFNB2 11q13.5 MYO7A Congenital to early SNHL, mild to profound shaker1 , sh-1 Weil et al. 1997

onset

DFNB3 17p11.2 MYO15 Congenital SNHL, profound shaker2 , sh-2 Friedman et al. 1995

Liang et al. 1998

DFNB4 7q31 PDS Congenital Profound SNHL; some patients with Li et al. 1998

enlarged vestibular aqueducts

DFNB5 14q12 Congenital Severe to profound SNHL Fukushima et al. 1995a

DFNB6 3p14-p21 Congenital Profound SNHL spinner , sr Fukushima et al. 1995b

DFNB7 9q13-q21 Congenital Profound SNHL deafness , dn Jain et al. 1995

DFNB8 21q22 Postlingual Profound SNHL by age 16 yrs Veske et al. 1996

DFNB9 2p22-p23 OTOF Congenital Profound SNHL before second year Chaib et al. 1996a

of life Leal et al. 1998

DFNB10 21q22.3 Congenital Severe to profound SHNL Bonné-Tamir et al. 1996

DFNB11 9q13-q21 Congenital profound SNHL Scott et al. 1996;

Greinwald et al. 1997

DFNB12 10q21-q22 Prelingual Profound SNHL waltzer, v Chaib et al. 1996b

DFNB13 7q34-36 Prelingual Severe SNHL; probably progressive Mustapha et al. 1998a

DFNB14 7q31 Prelingual Profound SNHL Mustapha et al. 1998b

DFNB15 3q21.3-q25.2 Prelingual Profound SNHL mocha , mh Chen et al. 1997

19p13.3-p13

DFNB16 15q15-q21 ~5-7 yrs Mild to severe SNHL Campbell et al. 1997

Villamar et al. 1999

DFNB17 7q31 Congenital Profound SNHL Greinwald et al. 1998

DFNB18 11p15.1-p14 Congenital Profound SNHL Jain et al. 1998

DFNB20 11q25-qter Congenital—1 yr Moderate to profound SNHL; joint Moynihan et al. 1999

contractures

DFNB21 11q TECTA Prelingual Severe to profound SNHL Mustapha et al. 1999

DFNB26 4q Congenital Profound SNHL Riazuddin et al. 1999

Underlined mouse mutant strain is known to be the orthologue of the human locus, otherwise mouse model is speculative. SNHL, sensorineural hearing
loss. DFNB loci published in peer-review journals are included in this table.