Biology Reference
In-Depth Information
TABLE 6.5.
Continued
Inheritance
Locus
Gene
Auditory
Mouse
Selected
Syndrome
and Location
Symbol
Gene Product
Function
Phenotype
Associated Pathology
Model
References
Cleidocranial
AD;
CCD/
Core binding
Osteoblast-
CHL or
Absent/abnormal
cleidocranial
Mundlos et al. 1997;
dysplasia
6p21
CLCD/
factor, runt
specific
MHL
clavicles, other skeletal
dysplasia,
Sillence et al. 1987
CBFA1
domain, a1
transcription
malformations
Ccd
factor
Cockayne's
AR;
CSA/
WD repeat
RNA
Juvenile-
Defective DNA repair;
Henning et al. 1995
syndrome, Type
Chr.5
CKN1
protein
polymerase
onset SNHL
growth failure; mental
I/A (classic form)
II
retardation; central
transcription
nervous system
?
deterioration;
photodermatitis; skeletal
anomalies
Type II/B
10q11
CSB/
DNA excision
DNA
Same as
Same as above
Mallery et al. 1998;
(congenital
ERCC6
repair gene
excision
above
Troelstra et al. 1992
form)
repair
Coffin-Lowry
XLD;
CLS/
Ribosomal
Mitogen-
Mod.-severe
Mental and somatic
Trivier et al. 1996
syndrome
Xp22.2-
RSK2/
protein S6
activated
SNHL
growth retardation;
p22.1
RPS6KA3
kinase
ser/thr kinase
skeletal anomalies
Craniofacial-
AD;
CDHS/
Paired-box
Transcription
SNHL
Craniofacial, hand/
Asher et al. 1996
deafness-hand
2q35
PAX3
DNA-binding
factor
skeletal abnormaltities
syndrome
protein
Craniometaphyseal
AD, AR;
CMDJ
Unknown
Unknown
Progressive
Craniofacial, skeletal
Nurnberg et al. 1997
dysplasia, Jackson
5p15.2-p14.1
MHL
abnormalities; occasional
type
facial nerve
compression/palsy
Crouzon syndrome
AD;
CFD1/
Fibroblast
Tyrosine
CHL
Premature fusion of
Reardon et al. 1994
10q26
FGFR2
growth factor
kinase
cranial sutures,
receptor 2
growth
craniofacial deformities;
factor
small or absent ear canal
receptor
(15%)
