Biology Reference
In-Depth Information
TABLE 6.5. Syndromic Hearing Loss Loci
Inheritance
Locus
Gene
Auditory
Mouse
Selected
Syndrome
and Location
Symbol
Gene Product
Function
Phenotype
Associated Pathology
Model
References
Adrenoleuko-
XL;
ALD
Homology to
Lysosomal
Progressive
Progressive central
Mosser et al. 1993
dystrophy
Xq28
ATP-binding
membrane
SNHL
nervous system
transporters
transport?
demyelination;
blindness
Albinism-deafness
XL; Xq26.3-
ADFN
Unknown
Unknown
Congenital
Pigmentation
Shiloh et al. 1990
syndrome
q27.1
SNHL
abnormalities
Alport syndrome
XLD; Xq22
ATS
/
Collagen
Basement
Progressive
Progressive nephritis;
Barker et al. 1990;
COL4A5
a5(IV)
membrane
SNHL
lens abnormalities
Lemmink et al. 1997
component
(cochlear)
AR, AD;
COL4A3,
Collagen
Basement
Same as
Same as above
Col4a3
-/-
Lemmink et al. 1994;
2q35-q37
COL4A4
a3(IV), a4(IV)
membrane
above
knockout
Mochizuki et al. 1994;
component
Lemmink et al. 1997;
Cosgrove et al. 1998
Alström syndrome
AR;
ALSS
Unknown
Unknown
Progressive
Pigmentary retinopathy;
tubby,
tub
Kleyn et al. 1996;
2p13-p12
SNHL
diabetes mellitus;
Noben-Trauth et al.
(cochlear)
obesity
1996; Collin et al.
1997
Apert syndrome
Sporadic
ACS1
/
Fibroblast
Tyrosine
Congenital
Premature fusion of
Wilkie et al. 1995
(AD); 10q26
FGFR2
growth factor
kinase
conductive
cranial sutures,
receptor 2
growth
HL
craniofacial, digital
factor
deformities; mental
receptor
retardation
Aspartylglucos-
AR;
AGU
/
N-aspartyl b-
Lysosomal
CHL, SNHL,
Mild bone abnormalities;
Aga
-/-
Ikonen et al. 1991;
aminuria
4q32-q33
AGA
glucosaminidase
enzyme
or MHL
progressive mental
knockout
Kaartinen et al. 1996
retardation; coarse facies
Beta
AR;
MANB1
Beta-
Lysosomal
Mild-mod
Severe developmental
Alkhayat et al. 1998
mannosidosis
4q22-q25
mannosidase
enzyme
SNHL
delay; coarse facies
Biotinidase
AR;
BTD
biotinidase
Co-factor for
SNHL or
Metabolic acidosis;
Pomponio et al. 1995
deficiency
3p25
carboxylases
MHL
dermatologic, central
nervous system
abnormalities
