Autosomal and X-Linked Auditory Disorders - Genetics of Auditory Disorders - page 176

TABLE 6.5. Continued
Inheritance Locus Gene Auditory Mouse Selected

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

Tietz syndrome AD; MITF Microphthalmia Transcription Congenital Skin/hair albinism microphthal- Steingrimsson et al.

3p14.1-p12.3 -associated factor prof SNHL; mia, mi 1994; Amiel et al.

transcription normal 1998; Smith et al.

factor vestibular 1997

function

Townes-Brocks AD; TBS/ C2H2 zinc Transcription SNHL Deformities of external Kohlhase et al. 1998

syndrome 16q12.1 SALL1 finger factor ears, anus, digits, kidneys,

transcription and heart

factor

Treacher Collins' AD; TCOF1/ Nucleolar Nucleolar Variable Craniofacial anomalies; Treacher Collins,

syndrome 5q32-q33.1 TCS/ phosphoprotein protein CHL eyelid colobomas syndrome

MFD1 trafficking? collaborative group

1996; Wise et al. 1997

Usher syndrome, AR; USH1A/ Unknown Unknown Congenital Onset of retinitis Kaplan et al. 1992

Type 1A 14q32 USH1 severe-prof pigmentosa (retinal

SNHL; degeneration, blindness)

absent by 10 yrs

vestibular
function

Type 1B 11q13.5 USH1B/ Type VIIA Intracellular Same as Same as above shaker-1, sh1 Gibson et al. 1995;

MYO7A myosin- actin-based above Weil et al. 1995

unconventional transport?

Type 1C 11p15.1 USH1C Unknown Unknown Same as Same as above Keats et al. 1994

above

Type 1D 10q USH1D Unknown Unknown Same as Same as above Wayne et al. 1996

above

Type 1E 21q21 USH1E Unknown Unknown Same as Same as above Chaib et al. 1997

above

Type 1F 10 USH1F Unknown Unknown Same as Same as above Wayne et al. 1997

above