Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.
[krabbe disease]
A
clear
cut
genotype-phenotype
correlation
for
Krabbe
disease
is
not
available
.
Therefore
,
it
is
important
to
identify
new
mutations
and
their
associated
phenotypes
to
predict
the
prognosis
of
the
disease
.
The
aim
of
this
study
is
to
identify
the
causative
mutation
(
s
)
in
a
family
with
Krabbe
disease
.
After
a
clinical
evaluation
and
suspicion
of
Krabbe
disease
galactocerebrosidase
activity
was
analyzed
and
GALC
gene
mutation
analysis
was
performed
.
The
galactocerebrosidase
enzyme
activity
was
0
.
01
nmol
/
mg
/
h
protein
(
normal
range
0
.
8
-
4
)
.
For
further
investigation
mutation
screening
was
performed
by
Sanger
sequencing
across
the
17
exons
of
GALC
gene
.
A
novel
homozygous
mutation
c
.
727
delT
(
p
.
S
243
QfsX
7
)
was
found
.
In
this
study
we
present
the
clinical
findings
along
with
a
novel
GALC
mutation
in
a
consanguineous
Turkish
family
.
Although
the
relationship
between
the
various
genotypes
and
phenotypes
in
Krabbe
disease
has
not
been
fully
elucidated
an
accurate
genetic
family
study
is
helpful
for
genetic
counseling
follow-up
and
therapy
of
Krabbe
disease
.
Also
,
it
is
important
to
identify
new
mutations
in
order
to
clarify
their
clinical
importance
,
to
assess
the
prognosis
of
the
disease
,
and
to
suggest
either
prenatal
diagnosis
or
preimplantation
genetic
diagnosis
to
the
effected
families
.