Biology Reference
In-Depth Information
TABLE 6.5.
Continued
Inheritance
Locus
Gene
Auditory
Mouse
Selected
Syndrome
and Location
Symbol
Gene Product
Function
Phenotype
Associated Pathology
Model
References
4p16.3
ACS5/
Fibroblast
Tyrosine
CHL
Same as above
Bellus et al. 1996
FGFR 3
growth factor
kinase
receptor 3
growth
factor
receptor
Piebaldism
AD;
PBT/KIT
KIT
Mast/stem
Progressive
Pigmentation
Dominant
Geissler et al. 1988;
4q11-q12
protooncogene
cell growth
SNHL
abnormalities; ataxia;
white
Giebel and Spritz
factor
mental retardation
spotting,
W
1991; Spritz and
Beighton 1998
Refsum disease
AR;
HMSN IV/
Phytanoyl-CoA
Peroxisomal
Progressive
Retinitis pigmentosa
Jansen et al.
10pter-p11.2
PAHX/
hydroxylase
enzyme
SNHL
(retinal degeneration,
1997; Mihalik et al.
PHYH
blindness); cerebellar
1997
ataxia; increased plasma
phytanic acid
Refsum disease,
AR;
IRD/
Peroxisome
Peroxisomal
Prof SNHL
Retinitis pigmentosa;
Reuber et al. 1997
infantile form
7q21-q22
PEX1
biogenesis
matrix
mental retardation;
factor 1
protein
craniofacial dysmorphism;
import
liver dysfunction; short
stature
Renal tubular
AR;
dRTA/
B1-subunit of
Proton pump
Progressive
Impaired renal tubular
Karet et al. 1999
acidosis with
2cen-q13
ATP6B1
H
+
-ATPase
SNHL
acid secretion
sensorineural
deafness
Saethre-Chotzen
AD;
SCS/
TWIST
Transcription
Occas CHL
Premature fusion of
Twist
+/-
el Ghouzzi et al.
syndrome
7p21
ACS3/
factor
or MHL
cranial sutures; digit
heterozygous
1997; Howard et al.
TWIST
abnormalities
knockout
1997; Bourgeois et al.
10q26
SCS/
Fibroblast
Tyrosine
Occas CHL
Same as above
Fgfr2
-/-
1998 Arman et al.
ACS3/
growth factor
kinase
or MHL
knockout
1998; Paznekas et al.
FGFR2
receptor 2
growth
1998
factor
receptor
