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Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
[cohen syndrome]
Several
retinal
dystrophies
are
associated
with
syndromic
features
including
such
conditions
as
Bardet-
Biedl
and
Joubert
syndromes
.
Cohen
syndrome
is
an
autosomal
recessive
disorder
associated
with
multiple
clinical
manifestations
including
developmental
delay
,
acquired
microcephaly
,
myopia
,
pigmentary
retinopathy
,
joint
hypermobility
,
truncal
obesity
,
friendly
disposition
and
intermittent
neutropenia
.
In
young
patients
,
diagnosis
is
difficult
,
because
several
of
the
characteristic
features
may
not
be
present
until
school
age
or
later
years
and
the
intermittent
neutropenia
is
not
always
detectable
.
This
was
a
prospective
study
using
whole
exome
sequencing
in
syndromic
retinal
dystrophy
.
It
was
undertaken
in
a
hospital
and
research
institute
setting
.
Participants
in
this
study
were
members
of
a
consanguineous
Australian
family
of
Lebanese
ethnicity
with
two
siblings
with
retinal
dystrophy
,
microcephaly
and
developmental
delay
.
Detailed
clinical
evaluation
was
undertaken
.
Whole
exome
capture
and
sequencing
of
patient
genomic
DNA
samples
was
followed
by
sequence
alignment
,
variant
detection
,
comparison
and
prioritization
.
Pathogenic
variant
identification
in
the
disease-causing
gene
in
affected
individuals
.
We
identified
a
novel
homozygous
deletion
leading
to
a
frameshift
mutation
in
VPS
13
B
,
c
.
11327
del
,
p
.
(
Asn
3776
Thrfs
*
102
)
,
the
disease
gene
associated
with
Cohen
syndrome
.
This
report
emphasizes
the
value
of
a
broad
-based
whole
exome
sequencing
approach
in
disease
gene
identification
in
the
syndromic
retinal
dystrophies
,
where
all
disease
characteristics
may
not
be
present
in
young
patients
to
allow
a
clinical
diagnosis
.
This
facilitates
improved
prognostic
and
genetic
information
for
patients
and
families
.
Diseases
Validation
Diseases presenting
"cohen syndrome"
symptom
cohen syndrome
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