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Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.
[dentinogenesis imperfecta]
Osteogenesis
imperfecta
(
OI
)
is
a
heritable
disorder
with
bone
fragility
that
is
often
associated
with
short
stature
,
tooth
abnormalities
(
dentinogenesis
imperfecta
)
,
and
blue
sclera
.
The
most
common
mutations
associated
with
OI
result
from
the
substitution
for
glycine
by
another
amino
acid
in
the
triple
helical
domain
of
either
the
alpha
1
or
the
alpha
2
chain
of
collagen
type
I
.
In
this
study
,
we
compared
the
results
of
genotype
analysis
and
clinical
examination
in
161
OI
patients
(
median
age
:
13
years
)
who
had
glycine
mutations
in
the
triple
helical
domain
of
alpha
1
(
I
)
(
n
=
67
)
or
alpha
2
(
I
)
(
n
=
94
)
.
Serine
substitutions
were
the
most
frequently
encountered
type
of
mutation
in
both
chains
.
Compared
with
patients
with
serine
substitutions
in
alpha
2
(
I
)
(
n
=
40
)
,
patients
with
serine
substitutions
in
alpha
1
(
I
)
(
n
=
42
)
on
average
were
shorter
(
median
height
z-score
-
6
.
0
vs
-
3
.
4
;
P
=
0
.
005
)
,
indicating
that
alpha
1
(
I
)
mutations
cause
a
more
severe
phenotype
.
Height
correlated
with
the
location
of
the
mutation
in
the
alpha
2
(
I
)
chain
but
not
in
the
alpha
1
(
I
)
chain
.
Patients
with
mutations
affecting
the
first
120
amino
acids
at
the
amino-terminal
end
of
the
collagen
type
I
triple
helix
had
blue
sclera
but
did
not
have
dentinogenesis
imperfecta
.
Among
patients
from
different
families
sharing
the
same
mutation
,
about
90
and
75
%
were
concordant
for
dentinogenesis
imperfecta
and
blue
sclera
,
respectively
.
These
data
should
be
useful
to
predict
disease
phenotype
in
newly
diagnosed
OI
patients
.
Diseases
Validation
Diseases presenting
"blue sclera"
symptom
dentinogenesis imperfecta
This symptom has already been validated
