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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
"c"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
coats disease
cohen syndrome
dedifferentiated liposarcoma
epidermolysis bullosa simplex
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kallmann syndrome
oligodontia
papillon-lefèvre syndrome
phenylketonuria
pyruvate dehydrogenase deficiency
von hippel-lindau disease
x-linked adrenoleukodystrophy
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