Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
[x-linked adrenoleukodystrophy]
The
BCAP
31
gene
is
located
between
SLC
6
A
8
,
associated
with
X-
linked
creatine
transporter
deficiency
,
and
ABCD
1
,
associated
with
X-
linked
adrenoleukodystrophy
.
Recently
,
loss
-of-function
mutations
in
BCAP
31
were
reported
in
association
with
severe
developmental
delay
,
deafness
and
dystonia
.
We
characterized
the
breakpoints
in
eight
patients
with
deletions
of
SLC
6
A
8
,
BCAP
31
and
/
or
ABCD
1
and
studied
the
genotype-phenotype
correlations
.
The
phenotype
in
patients
with
contiguous
gene
deletions
involving
BCAP
31
overlaps
with
the
phenotype
of
isolated
BCAP
31
deficiency
.
Only
deletions
involving
both
BCAP
31
and
ABCD
1
were
associated
with
hepatic
cholestasis
and
death
before
one
year
,
which
might
be
explained
by
a
synergistic
effect
.
Remarkably
,
a
patient
with
an
isolated
deletion
of
the
3
'
end
of
SLC
6
A
8
had
a
similar
severe
phenotype
as
seen
in
BCAP
31
deficiency
but
without
deafness
.
This
might
be
caused
by
disturbance
of
a
regulatory
element
between
SLC
6
A
8
and
BCAP
31
.