Biology Reference
In-Depth Information
Type 2A
AR;
USH2A
Contains
Extracellular
Congenital
Onset of retinitis
Eudy et al. 1998
1q41
laminin-EGF
matrix/
mod-severe
pigmentosa in late
and fibronectin
adhesion
SNHL;
teens/early adulthood
domains
molecule?
normal
vestibular
function
Type 2B
5q14.3-q21.3
USH2B
Unknown
Unknown
Same as
Same as above
Pieke-Dahl et al. 1993;
above
Pieke-Dahl et al. 1998
Type 3
AR;
USH3
Unknown
Unknown
Progressive
Variable onset of retinitis
Sankila et al. 1995
3q21-q25
SNHL;
pigmentosa
normal or
decreased
vestibular
function
Van Buchem disease AR;
VBCH
Unknown
Unknown
MHL or
Skeletal hyperostosis
Van Hul et al. 1998
17q11.2
SNHL
Velocardiofacial
AD;
VCFS
Frequent
Multiple
CHL (assoc
Heart anomalies; facial
Driscoll et al. 1992
(Shprintzen)
22q11
contiguous gene
deleted
w/otitis
dysmorphism; palatal
syndrome
deletion
genes
media),
cleft/dysfunction; mild
occas SNHL
mental retardation
Vohwinkel
13q12
KHM/
Gap junction
Gap junction
SNHL
Mutilating keratoderma
Maestrini et al. 1999
syndrome, classic
GJB2/
beta-2 subunit
subunit
form
CX26
Vohwinkel
AD;
LOR
loricrin
Structural
Congenital
Hyperkeratosis and other
Maestrini et al. 1996
syndrome, variant
1q21
component
and/or
skin anomalies
form
of cell
progressive
envelope of
SNHL
epidermis
Waardenburg
AD;
WS1/
Paired-box
Transcription
Occas
Craniofacial dysmorphism, splotch,
sp
Epstein, Vekemans,
syndrome, Type I
2q35
PAX3
DNA-binding
factor
congenital,
including dystopia
and Gros 1991;
protein
variable
canthorum; pigmentation
Baldwin et al. 1992;
SNHL
abnormalities
Tassabehji et al. 1992
Type II
AD;
WS2/
Microphthalmia
Transcription
Same as
Craniofacial dysmorphism
microphthal-
Steingrimsson et al.
3p14.1-p12.3
WS2A/
-associated
factor
WS1, SNHL
without dystopia
mia,
mi
1994; Tassabehji,
MITF
transcription
may be
canthorum; pigmentation
Newton, and Read
factor
progressive
abnormalities
1994
