Autosomal and X-Linked Auditory Disorders - Genetics of Auditory Disorders - page 138

TABLE 6.4. Continued
Gene Name Proposed Function and Affected Auditory

Locus Symbol of Protein Expression Pattern Protein Domains Structure Selected References

DFNA15 POU4F3 Cochlea Transcription factor; Brn3c mouse KO is deaf Vahava et al. 1998

target genes not and circles; lack hair and

identified support cells; show inner

ear neuronal
degeneration

DFNB3 MYO15 myosin XV Inner ear and pituitary; Intracellular movement; Based on sh-2 mouse, Wang et al. 1998

( shaker-2 ) low levels in kidney, long N-terminal inner and outer hair Probst et al. 1998

brain, testes domain and myosin cells have short Liang et al. 1999

motor, IQ, Myth4, stereocilia

SH3, FIRM domains

DFNB4 and PDS pendrin Thyroid and inner ear Chloride/iodide anion Mondini malformation, Everett et al. 1997

Pendred (endolymphatic duct transporter enlargement of the Li et al. 1998

and sac, areas of the vestibular aqueducts, Scott et al. 1999

utricle and saccule, Everett et al. 1999

external sulcus within
the cochlea)

DFNB9 OTOF otoferlin Inner ear, brain, placenta, Hypothesized to be Hair cells Yasunaga et al. 1999

liver, pancreas, skeletal involved in synaptic Yasunaga et al. in press

muscle and kidney vesicle-plasma

membrane fusion

DFN3 BRN-4 POU3F4 Fibrocytes of the inner POU-domain Based on Brn-4 KO, deKok et al. 1995

ear transcription factor alterations in cochlear

fibrocytes