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A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.
[dentinogenesis imperfecta]
Osteogenesis
imperfecta
(
OI
)
,
also
known
as
brittle
bone
disease
,
characterized
by
multiplicative
osteopsathyrosis
,
blue
sclera
,
dentinogenesis
imperfecta
and
mild
audition
,
is
a
rare
inherited
connective
tissue
disease
.
There
are
seven
types
of
OI
,
I
to
VII
,
among
which
type
I
-IV
are
relatively
common
and
associated
with
type
I
collagen
.
Defects
in
type
I
collagen
synthesis
or
structure
are
responsible
for
the
majority
of
clinical
OI
cases
since
collagen
is
the
major
matrix
protein
of
all
connective
tissues
.
Type
I
collagen
consists
of
two
pro-α
1
chains
and
one
pro-α
2
chain
,
which
are
encoded
by
two
genes
,
COL
1
A
1
and
COL
1
A
2
,
respectively
.
The
two
subunits
have
a
Gly-
X-Y
repeat
domain
,
of
which
glycine
is
highly
conserved
in
the
majority
of
species
.
Point
mutations
on
these
sites
appear
to
trigger
OI
.
In
the
current
study
,
a
heterozygous
mutation
,
c
.
3263
G
>
A
,
p
.
Gly
1088
Glu
,
was
identified
in
the
Gly-
X-Y
domain
of
type
I
collagen
in
an
affected
individual
with
type
I
OI
.
A
lethal
phenotype
with
the
p
.
Gly
1088
A
la
mutation
was
observed
at
the
same
site
as
the
current
findings
.
This
suggests
that
variant
characteristics
of
the
substitution
for
Gly
may
trigger
a
varying
degree
of
OI
from
lethal
to
mild
,
even
when
the
mutation
occurs
at
the
same
site
.
It
is
hypothesized
that
the
study
may
provide
insight
into
the
phenotype-genotype
association
and
may
assist
,
not
only
in
the
clinical
diagnosis
,
but
also
in
investigating
the
mechanism
of
collagen-associated
diseases
.
Diseases
Validation
Diseases presenting
"type i collagen"
symptom
dentinogenesis imperfecta
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