Biology Reference
In-Depth Information
Bjornstad
AR; 2q34-
BJS
/
PTD
Unknown
Unknown
Congenital
Pili torti (flat, twisted
Lubianca Neto et al.
syndrome
q36
severe-prof
hair)
1998
SNHL
Branchio-oto-renal
AD; 8q13.3
BOR
/
Eyes-absent 1:
Unknown
CHL, SNHL,
Preauricular pits;
Eya1
-/-
Abdelhak et al. 1997;
syndrome
EYA1
Ortholog of
or MHL
branchial fistulas; renal
knockout
Johnson et al. 1998
drosophila
abnormalities
“eyes-absent”
gene
Branchio-otic
AD; 8q13.3
BOS
/
Eyes absent 1:
Unknown
Same as
Preauricular pits;
Vincent et al. 1997
(BO) syndrome
EYA1
Ortholog of
above
branchial fistulas
drosophila
“eyes-absent”
gene
BO syndrome with
AD; 1q31
BOR2
Unknown
Unknown
Same as
Preauricular sinuses;
Kumar et al. 2000
commissural lip
above
commissural lip pits
pits
Charcot-Marie-
AD; 17p11.2
CMT1A
/
Peripheral
Structural
SNHL
Motor and sensory
Lupski et al. 1991
Tooth Disease,
PMP22
myelin protein-
protein of
neuropathy
Kovach et al. 1999
Type 1A
22
peripheral
myelin
Type 1B
AD;
CMT1B/
Myelin protein
Structural
SNHL
Same as above
Hayasaka et al. 1993
1q22
MPZ
zero
protein of
peripheral
myelin
Type 2A
AD;
CMT2/
Unknown
Unknown
SNHL
Same as above
Ben Othmane et al.
1p36-p35
CMT2A
1993
Type 4A
AR;
CMT4/
Unknown
Unknown
SNHL
Same as above
Ben Othmane et al.
8q13-q21.1
CMT4A
1993
Type 4B
AR;
CMT4B
Unknown
Unknown
SNHL
Same as above
Bolino et al. 1996
11q23
X-linked
XLD;
CMTX/
Connexin 32
Gap junction
SNHL
Same as above
Bergoffen et al. 1993
dominant
Xq13.1
CX32/
protein
GJB1
X-linked
XLR;
CMTX2
Unknown
Unknown
SNHL
Same as above
Ionasescu et al. 1991
recessive
Xp22
