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[Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].
[dentinogenesis imperfecta]
Patients
with
osteogenesis
imperfecta
(
OI
)
represent
various
degrees
of
bone
fragility
and
accompany
many
clinical
manifestations
such
as
dentinogenesis
imperfecta
,
blue
sclera
,
growth
disturbance
,
hearing
impairment
and
so
on
.
Although
most
OI
is
caused
by
genetic
mutation
of
type
I
collagen
gene
;
COL
1
A
1
and
COL
1
A
2
,
other
genes
that
concerns
post-translational
modification
of
type
I
collagen
molecules
such
as
CRTAP
,
LEPRE
1
,
PPIB
,
SERPINH
1
and
FKBP
10
were
found
to
be
the
causative
candidates
of
OI
.
On
the
other
hand
,
genetic
causes
of
type
V
and
type
VI
OI
are
not
identified
.
For
the
classification
of
OI
,
Sillence
's
classification
had
been
used
and
had
been
repeatedly
revised
at
the
times
of
identification
of
new
causative
genes
of
OI
.
Diseases
Validation
Diseases presenting
"bone fragility"
symptom
achondroplasia
dentinogenesis imperfecta
This symptom has already been validated
