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Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.
[classical phenylketonuria]
Phenylketonuria
is
one
of
the
most
common
genetic
diseases
in
humans
,
affecting
1
in
10
,
000
whites
.
Deletions
are
generally
uncommon
in
genes
in
which
no
long
highly
homologous
segments
are
present
,
and
in
phenylalanine
hydroxylase
(
PAH
)
deficiency
they
represent
only
5
%
of
cases
.
We
present
the
case
of
a
girl
affected
by
classical
phenylketonuria
who
has
been
screened
for
mutations
in
the
PAH
gene
.
During
the
molecular
study
a
large
de
novo
deletion
has
detected
in
12
qter
,
including
PAH
,
and
the
genes
for
insulin
-like
growth
factor
1
(
IGF
1
)
,
human
achaete-scute
homolog
1
(
ASCL
1
)
,
and
tumor
rejection
antigen
(
TRA
1
)
.
The
patient
showed
phenylketonuria
,
short
stature
,
and
pathological
electro-oculography
results
in
both
eyes
,
with
high
affectation
of
the
relative
electrogenesis
of
the
photoreceptor-pigment
epithelium
complex
.
She
had
previously
been
misdiagnosed
as
homozygous
for
the
IVS
8
nt
-
7
A
-G
mutation
,
instead
of
heterozygous
for
a
mutation
and
a
de
novo
deletion
.
As
a
result
incorrect
genetic
counseling
had
been
given
.
The
deletion
of
the
PAH
,
IGF
1
,
and
ASCL
1
genes
could
explain
the
patient
's
phenotype
corresponding
to
a
contiguous
gene
syndrome
.
We
stress
the
relevance
of
polymorphic
marker
haplotype
analysis
and
the
importance
of
family
study
in
genetic
recessive
diseases
,
such
as
phenylketonuria
,
to
avoid
incorrect
diagnosis
and
genetic
counseling
.
Diseases
Validation
Diseases presenting
"incorrect genetic counseling"
symptom
classical phenylketonuria
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