Autosomal and X-Linked Auditory Disorders - Genetics of Auditory Disorders - page 137

TABLE 6.4. Molecular genetics and expression patterns of identified DFNA, DFNB and DFN loci
Gene Name Proposed Function and Affected Auditory

Locus Symbol of Protein Expression Pattern Protein Domains Structure Selected References

DFNA1 DIAPH1 diaphanous 1 Cochlea, brain, heart, DIAPH1, member of the Hair cell cytoskeleton Lynch et al. 1997

placenta, lung, kidney, formin gene family

pancreas, liver, skeletal involved in cytokinesis,

muscle cell polarity and actin

polymerization

DFNA2 KCNQ4 Outer hair cells of the Potassium channel Kubisch et al. 1999

cochlea and the heart

GJB3 connexin 31 Skin, inner ear Gap junction Xia et al. 1998

Liu et al. 2000

DFNA3 and GJB2 connexin 26 Cochlea; liver, pancreas, Gap junction Support cell, spiral Kelsell et al. 1997

DFNB1 ( Cx26 ) many other tissues limbus, spiral ligament Kumar and Gilula 1996

stria vascularis Kikuchi et al. 1995

Lautermann et al. 1998

DFNA5 DFNA5 DFNA5 Cochlea, lymphoblastoid Van Laer et al. 1998

cells; brain, heart,
placenta, kidney

DFNA9 COCH Coch Cochlea and vestibular vonWillebrand type-A- Robertson et al. 1998

tissue like domain; serine

protease domain

DFNA8 and TECTA a-tectorin Inner ear Structural protein Tectorial membrane Verhoeven et al. 1998

DFNA12
DFNA11 , MYO7A myosin VIIA Inner ear and retina Intracellular movement; Hair cell Hasson et al. 1995

DFNB2 , ( shaker-1 ) myosin motor IQ, Liu et al. 1998

and MyTh4, talin-like Weil et al. 1997

USH1B domains, kinesin tail

homology