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Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.
[lamellar ichthyosis]
Autosomal
recessive
congenital
ichthyosis
(
ARCI
)
is
a
rare
,
nonsyndromic
,
heterogeneous
disorder
of
cornification
.
It
is
divided
into
three
clinical
subtypes
:
lamellar
ichthyosis
(
LI
)
;
congenital
ichthyosiform
erythroderma
;
and
harlequin
ichthyosis
.
In
the
majority
of
patients
,
LI
is
caused
by
transglutaminase-
1
(
TGase
1
)
deficiency
resulting
from
mutations
in
both
copies
of
the
transglutaminase
1
(
TGM
1
)
gene
in
chromosome
14
.
W
e
report
a
patient
with
a
severe
LI
phenotype
who
has
a
homozygous
putative
splicing
mutation
in
the
TGM
1
gene
.
Our
aim
is
to
assess
the
pathologic
effect
of
the
TGM
1
c
.
984
+
1
G
>
A
by
splicing
assays
and
bioinformatic
tools
.
c
.
984
+
1
G
>
A
mutation
created
two
alternative
TGM
1
mRNA
splice
variants
that
included
30
or
32
nucleotides
of
the
5
'
of
intron
6
.
At
the
protein
level
,
the
partial
in
-frame
aberrant
transcript
retaining
30
bp
of
intron
6
led
to
the
insertion
of
10
amino
acids
(
p
.
Met
329
_
Val
330
ins
10
)
at
the
catalytic
core
domain
of
TGM
1
protein
(
codons
247
-
572
)
,
whereas
the
transcript
with
the
insertion
of
32
nucleotides
is
predicted
to
encode
a
truncated
protein
(
p
.
Val
330
MetfsX
12
)
.
Our
splicing
assay
,
together
with
bioinformatic
prediction
tools
,
supports
the
pathological
effect
of
the
recently
identified
c
.
984
+
1
G
>
A
mutation
in
the
TGM
1
gene
and
unravels
the
molecular
mechanism
by
which
c
.
984
+
1
G
>
A
acts
.
Diseases
Validation
Diseases presenting
"unravels the molecular mechanism by which c"
symptom
harlequin ichthyosis
lamellar ichthyosis
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