Biology Reference
In-Depth Information
Kallmann
XL (AD)
KAL1/
Neural cell
Axonal path-
Occas mild
Hypogonadism; anosmia,
Bick et al. 1992;
syndrome
(AR);
HHA/
adhesion
finding?
SNHL or
agenesis of olfactory
Legouis et al. 1991
Xp22.3
KALIG-1/
molecule
mod-severe
lobes
ADMLX
MHL
Kniest dysplasia
Sporadic,
COL2A1
Collagen a1(II)
Fibrillar
CHL, SNHL,
Skeletal abnormalities;
COL2A1
,
Garofalo et al. 1991;
(metatropic
AD;
collagen-
or MHL
cleft palate
Col2a1
Vandenberg et al.
dysplasia, Type II)
12q13.11-
cartilage
transgenic
1991; Winterpacht
q13.2
knockins;
et al. 1993; Li et al.
Col2a1
+/-
1995
heterozygous
knockout
Krabbe disease
AR;
GALC/
Galactosylcera-
Lysosomal
Progressive
Central nervous system
Twitcher,
twi
Sakai et al. 1996;
14q24.3-
GLD/
mide beta-
enzyme
SNHL
degeneration; progresive
Wenger et al.
q32.1
GCL
galactosidase
blindness
1997
Marfan syndrome
AD;
MFS1/
Fibrillin-1
Formation of
CHL or
Skeletal, ocular,
Dietz et al. 1991
15q21.1
MFS/
microfibrils
SNHL
cardiovascular anomalies
FBN1
3p24.2-p25
MFS2
Unknown
Unknown
Skeletal, cardiovascular
Collod et al. 1994
anomalies
Marshall syndrome
AD;
COL11A1
Collagen
Fibrillar
Progressive
Skeletal, joint
Chondrodysplasia,
Li et al. 1995; Griffith
1p21
a1(XI)
collagen-
SNHL
abnormalities; myopia;
cho
et al. 1998; Annunen
cartilage
cataracts; craniofacial
et al. 1999
dysmorphism
Mohr-Tranebjaerg
XL;
MTS/
Unknown
Unknown
Progressive
Blindness; dystonia;
Jin et al. 1996
syndrome
Xq22
DDP/
SNHL
mental deficiency;
DFN1
fractures
Multiple synostoses
AD;
SYNS1
Unknown
Unknown
Progressive
Premature joint fusions;
Krakow et al. 1998
syndrome 1
17q21-q22
CHL
skeletal abnormalities
Neurofibromatosis,
AD;
NF2/
MERLIN/
Tumor
Progressive
Schwannomas of other
Rouleau et al. 1993;
Type 2
22q12.2
BANF/
Schwannomin
suppressor
SNHL;
nerves; brain tumors;
Trofatter et al. 1993;
CAN/
vestibular
cataracts; café-au-lait
Trofatter et al. 1993
SCH
dysfunction
spots; subcutaneous
neurofibromas
