Autosomal and X-Linked Auditory Disorders - Genetics of Auditory Disorders - page 170

TABLE 6.5. Continued
Inheritance Locus Gene Auditory Mouse Selected

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

Hereditary motor AR; HMSNL/ Unknown Unknown Progressive Peripheral nervous Kalaydjieva et al.

and sensory 8q24 NMSL SNHL system demyelination and 1996

neuropathy, Lom degeneration; foot and

type hand skeletal deformities

Hunter syndrome XLR; IDS/ Iduronate 2- Lysosomal SNHL or Central nervous system Wilson et al. 1990

Xq28 MPS2 sulfatase enzyme MHL degeneration; mental

retardation; craniofacial
dysmorphism; dysostosis

Hurler syndrome AR; IDUA/ a-L-iduronidase Lysosomal CHL or Central nervous system Idua -/- Scott et al. 1995;

4p16.3 MPS enzyme MHL degeneration; mental knockout Clarke et al. 1997

retardation; craniofacial
dysmorphism; dysostosis

Hypophosphatemia XLD; HYP1/ Similarity to unknown Progressive Vitamin-D resistant Hypophos- HYP consortium

(Familial Xp22.2- XLH/ metallopep- SNHL; osteomalacia phatemia, 1995; Strom et al.

hypophosphatemic p22.1 HPDR1/ tidases vestibular Hyp 1997

rickets) PHEX/ hypofunction Gyro, Gy

PEX

Type II XLD, XLR; HYP2/ Chloride Voltagegated Same as above Same as above Lloyd et al. 1996

Xp11.22 HPDR2/ channel 5 chloride

CLCN5 channel

Jensen syndrome XL; MTS/ Unknown Unknown Congenital Dementia; progressive Tranebjaerg et al.

Xq22 DDP/ SNHL blindness; skeletal muscle 1997

DFN1 wasting

Jervell and Lange- AR; JLNS1/ alpha subunit of Delayed Congenital Cardiac conduction Neyroud et al. 1997;

Nielsen syndrome 11p15.5 KVLQT1/ I(Ks) rectifier prof. SNHL abnormality; recurrent Splawski et al. 1997

KCNQ1 potassium drop attacks; sudden

channel death

21q22.1- JLNS2/ beta subunit of Delayed Same as Same as above isk -/- Vetter et al. 1996;

q22.2 IsK/ I(Ks) rectifier above knockout Schulze-Bahr et al.

KCNE1 potassium 1997; Tyson et al. 1997

channel