Biology Reference
In-Depth Information
4p16.3
SCS/
Fibroblast
Tyrosine
Occas CHL
Same as above
Fgfr3 -/-
Colvin et al. 1996;
ACS3/
growth factor
kinase
or MHL
knockout
Deng et al. 1996;
FGFR3
receptor 3
growth
Paznekas et al. 1998
factor
receptor
Sialidosis
AR;
NEU/
Sialidase/
Lysosomal
CHL or
Central nervous system
SM/J line
Bonten et al. 1996;
6p21.3
NEU1
Neuraminidase
enzyme
MHL
degeneration; vision loss;
Pshezhetsky et al.
dysostosis; facial
1997; Rottier et al.
dysmorphism
1998
Smith-Magenis
Sporadic;
SMS/
Contiguous
Multiple
CHL, occas
Somatic, mental
Chen et al. 1997;
syndrome
17p11.2
SMCR
gene deletion
deleted genes
SNHL
retardation; behavioral
Smith et al. 1986
including
abnormalities; nonspecific
MYO15
combinations of
anomalies
Spondyloepiphyseal
AD;
SEDC/
Collagen al (II)
Fibrillar
Occas. mod-
Skeletal abnormalities;
dysplasia congenita
12q13.11-
COL2A1
collagen-
severe high-
cleft palate; short stature
q13.2
cartilage
freq. SNHL
Stickler syndrome,
AD;
STL1/
Collagen a1(II)
Fibrillar
Progressive
Skeletal and joint
COL2A1 ,
Garofalo et al. 1991;
Type I
12q13.11-
COL2A1
collagen-
SNHL, occas
abnormalities;
Col2a1
Vandenberg et al.
q13.2
cartilage
CHL
myopia; cataracts;
transgenic
1991; Spranger et al.
craniofacial dysmorphism
knockins;
1994; Li et
Col2a1 +/-
al. 1995
heterozygous
knockout
Type II
AD;
STL2/
Collagen
Fibrillar
SNHL
Same as type I Stickler's
Vikkula et al. 1995;
6p21.3
COL11A2 a2(XI)
collagen-
syndrome, but no ocular
Sirko-Osadsa et al.
cartilage
manifestations
1998
Type III
AD;
STL3/
Collagen
Fibrillar
SNHL
Same as type I Stickler's
Chondrodys-
Li et al. 1995;
1p21
COL11A1 a1(XI)
collagen-
syndrome
plasia, cho
Richards et al. 1996;
cartilage
Annunen et al. 1999
Symphalangism,
AD;
SYM1
Unknown
Unknown
CHL
Fusion of extremity joints
Polymeropoulos et al.
proximal
17q21-q22
1995
Tay-Sachs disease
AR;
TSD/
Hexosaminidase
Lysosomal
SNHL
Progressive mental, motor
Hexa -/-
Sango et al. 1995;
15q23-q24
HEXA
A
enzyme
retardation; seizures;
knockout
Myerowitz 1997
blindness
Search WWH ::




Custom Search