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
.
Diseases
Validation
Diseases presenting
"loss-of-function mutations"
symptom
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
esophageal adenocarcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hirschsprung disease
kallmann syndrome
kindler syndrome
lamellar ichthyosis
neonatal adrenoleukodystrophy
pendred syndrome
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated