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[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].
[achondroplasia]
This
study
aimed
to
report
the
clinical
characteristics
and
COMP
gene
mutation
of
a
family
with
pseudoachondroplasia
(
PSACH
)
,
a
relatively
rare
spinal
and
epiphyseal
dysplasia
that
is
inherited
as
an
autosomal
dominant
trait
.
Clinical
information
on
a
5
-
year
-
2
-
month
-old
PSACH
child
and
his
parents
was
collected
and
analyzed
.
Diagnosis
was
confirmed
by
PCR
amplification
and
direct
sequencing
of
all
the
19
exons
and
their
flanking
sequences
of
COMP
gene
,
and
the
mutation
was
further
ascertained
by
cloning
analysis
of
exon
10
.
The
child
presented
with
short
and
stubby
fingers
,
bow
leg
,
short
limb
dwarfism
and
metaphysic
broadening
in
long
bone
as
well
as
lumbar
lordosis
.
A
mutation
c
.
1048
_
1116
del
(
p
.
Asn
350
_
Asp
372
del
)
in
exon
10
,
inherited
from
his
father
who
did
not
demonstrate
any
phenotypic
feature
of
PSACH
,
was
detected
in
the
child
.
PSACH
was
diagnosed
definitively
by
means
of
COMP
mutation
analysis
,
on
the
basis
of
the
child
's
clinical
and
imaging
features
.
The
non-penetrance
phenomenon
of
COMP
mutation
was
described
for
the
first
time
in
PSACH
.
