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ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.
[achondroplasia]
Skeletal
dysplasias
(
SKD
)
are
genetic
disorders
that
result
in
the
abnormal
development
of
part
or
all
of
the
skeleton
and
are
commonly
associated
with
short
stature
.
The
most
common
SKDs
that
typically
result
in
short
stature
include
achondroplasia
/
hypochondroplasia
(
HCH
)
both
caused
by
different
mutations
in
the
same
gene
.
HCH
diagnosis
is
based
on
the
clinical
appearance
during
development
and
conventional
X-
ray
findings
.
In
about
70
%
of
patients
,
missense
mutations
in
the
gene
coding
for
the
fibroblast
Growth
Factor
Receptor
3
(
FGFR
3
)
affects
the
amino
acid
at
position
540
,
mostly
resulting
in
the
amino
acid
exchange
N
540
K
.
Subjects
with
HCH
,
heterozygous
for
the
N
540
K
substitution
are
significantly
more
disproportionate
than
individuals
without
this
mutation
.
We
report
the
clinical
and
radiographic
features
of
an
Italian
family
with
HCH
with
an
unusual
N
540
S
mutation
,
inside
the
common
mutation
hot
spot
of
this
condition
.
This
is
the
first
case
reported
in
Italy
and
the
third
in
the
literature
.
During
a
7
-
years
-follow-up
,
the
boy
started
the
puberty
at
the
age
of
11
.
3
years
and
the
growth
spurt
was
observed
between
13
.
7
and
14
.
9
years
(
+
9
.
1
cm
.
)
.
During
pubertal
development
the
sitting
height
(
SDS
)
improved
from
-
1
.
5
to
-
0
.
6
and
the
subischial
leg
length
(
SDS
)
progressed
from
-
2
.
6
to
-
3
.
3
.
At
the
age
of
16
.
7
year
the
standing
height
was
157
.
6
cm
(
-
2
.
4
SDS
)
,
testicular
volume
was
15
ml
and
bone
age
16
.
5
year
.
The
present
study
and
the
other
two
cases
reported
in
the
literature
stress
the
important
role
of
the
asn
540
site
in
the
tyrosine
kinase
I
domain
in
the
pathogenesis
of
HCH
and
underline
the
importance
that
,
in
patients
with
HCH
who
do
not
have
the
common
N
540
K
mutation
,
sequence
analysis
of
the
tyrosine
kinase
I
domain
of
FGFR
3
should
be
performed
to
exclude
other
changes
in
that
region
.
Diseases
Validation
Diseases presenting
"the abnormal development of part or all of the skeleton"
symptom
achondroplasia
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