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Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.
[cohen syndrome]
Over
one
hundred
VPS
13
B
mutations
are
reported
in
Cohen
syndrome
(
CS
)
.
Most
cases
exhibit
a
homogeneous
phenotype
that
includes
intellectual
deficiency
(
ID
)
,
microcephaly
,
facial
dysmorphism
,
slender
extremities
,
truncal
obesity
,
progressive
chorioretinal
dystrophy
,
and
neutropenia
.
We
report
on
a
patient
carrying
two
VPS
13
B
splicing
mutations
with
an
atypical
phenotype
that
included
microcephaly
,
retinopathy
,
and
congenital
neutropenia
,
but
neither
obesity
nor
ID
.
RNA
analysis
of
the
IVS
34
+
2
T
_
+
3
AinsT
mutation
did
not
reveal
any
abnormal
splice
fragments
but
mRNA
quantification
showed
a
significant
decrease
in
VPS
13
B
expression
.
RNA
sequencing
analysis
up-
and
downstream
from
the
IVS
57
+
2
T
>
C
mutation
showed
abnormal
splice
isoforms
.
In
contrast
to
patients
with
typical
CS
,
who
express
only
abnormal
VPS
13
B
mRNA
and
truncated
protein
,
a
dose
effect
of
residual
normal
VPS
13
B
protein
possibly
explains
the
incomplete
phenotype
in
the
patient
.
This
observation
emphasizes
that
VPS
13
B
analysis
should
be
performed
in
cases
of
congenital
neutropenia
associated
with
retinopathy
,
even
in
the
absence
of
ID
,
therefore
extending
the
VPS
13
B
phenotype
spectrum
.
Diseases
Validation
Diseases presenting
"atypical phenotype"
symptom
cohen syndrome
cowden syndrome
fabry disease
kabuki syndrome
omenn syndrome
proteus syndrome
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