Biology Reference
In-Depth Information
Dejerine-Sottas
AD; 17p11.2
DSN/
Peripheral
Structural
SNHL
Motor and sensory
Ionasescu et al. 1996
syndrome
HMSN3/
myelin protein-
protein of
neuropathy
PMP22
22
peripheral
myelin
DiGeorge
Sporadic,
DGS/
Contiguous
Multiple
CHL, SNHL,
Aberrant development
Greenberg et al. 1988
syndrome
AD, AR;
DGCR
gene deletion
deleted
or MHL
of aorta, thyroid and
22q11
genes
thymic glands;
craniofacial deformities
10p14-p13
DGS2
Contiguous
Multiple
Same as above
Daw et al. 1996;
gene deletion
deleted
Greenberg et al. 1988
genes
Ectrodactyly,
Sporadic
EEC1
Unknown
Unknown
Variable
Absent fingers, lacrimal
Fukushima, Ohashi,
ectodermal
(AD);
CHL, SNHL,
puncta; cleft lip ± palate;
and Hasegawa 1993;
dysplasia, and cleft
7q11.2-q21.3
or MHL
abnormal pigmentation
Qumsiyeh 1992
lip/palate
of hair
syndrome, Type I
Type II
19p13.1-
EEC2
Unknown
Unknown
Same as above
O'Quinn et al. 1998
q13.1
Fabry disease
XLR;
GLA
a-galactosidase
Lysosomal
Cutaneous
a
-Gal A
-/
0
Ohshima et al. 1997;
Xq22
A
enzyme
angiokeratomas;
knockout
Bernstein et al. 1989
paresthesias; cataracts
FG syndrome
XLR;
FGS
Unknown
Unknown
SNHL
Mental retardation; facial
Briault et al. 1997
Xq12-q21.31
dysmorphism; hypotonia;
imperforate anus
Friedreich ataxia,
AR;
FRDA/
Frataxin
Mitochondri
Mild-mod.
Central and peripheral
Campuzano et al.
type I
9q13
FRDA1
al protein;
SNHL
nervous system
1996
iron
degeneration; loss of
homeostasis
myelinated nerve fibers
Gustavson
XL;
GUST
Unknown
Unknown
Severe
Mental retardation;
Malmgren et al. 1993
syndrome
Xq26
SNHL
seizures; spasticity;
progressive blindness
