Autosomal and X-Linked Auditory Disorders - Genetics of Auditory Disorders - page 178

TABLE 6.5. Continued
Inheritance Locus Gene Auditory Mouse Selected

Syndrome and Location Symbol Gene Product Function Phenotype Associated Pathology Model References

Type II, Autosomal WS2-OA/ Microphthalmia Transcription Progressive Ocular albinism Bard, 1978; Morell

with ocular digenic; MITF -associated factor SNHL et al. 1997

albinism 3p14.1- transcription

p12.3 factor

11q14-q21 OCA1/ Tyrosinase Tyrosinase

TYR

Type III (Klein- AD, AR; WS3/ Paired-box Transcription SNHL Same as WS1, with splotch, sp Epstein et al.

Waardenburg) 2q35 PAX3 DNA-binding factor skeletal abnormalties 1991; Hoth et al.

protein 1993; Zlotogora et al.

1995

Type IV (Shah- AR; WS4/ Endothelin-3 Extracellular SNHL Same as WS2, with Spotting Baynash et al. 1994;

Waardenburg) 20q13.2- EDN3 signalling Hirschsprung disease lethal, sl ; Edery et al. 1996;

q13.3 peptide (lack of autonomic edn3 -/- Hofstra et al. 1996

innervation to colon) knock-out

AR; 13q22 WS4/ Endothelin G SNHL Same as above ednrb -/- Hosoda et al. 1994;

EDNRB receptor, type B proteincoupled knock-out Puffenberger et al.

receptor 1994; Attie et al. 1995

AD; 22q13 WS4/ SRY-related Transcription SNHL Same as above Dominant Herbarth et al. 1998;

SOX10 transcription factor megacolon, Pingault et al. 1998;

factor Dom Southard-Smith et al.

1998

Wolfram syndrome AR; WFS/ Wolframin Unknown Progressive Progressive blindness, Inoue et al. 1998;

4p16.1 WFS1c SNHL, diabetes mellitus, diabetes Strom et al. 1998

HF > LF insipidus

Xeroderma AR; XPA/ Zinc finger DNA Progressive Photosensitivity; Xpa -/- Tanaka et al. 1990; de

pigmentosum, 9q22.3-q31 XP1/ domain protein excision SNHL, cutaneous malignancies; knock-out Vries et al. 1995;

group A XPAC repair HF > LF neurologic abnormalities Nakane et al. 1995