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A random Abstract
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Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
[lamellar ichthyosis]
Lamellar
Ichthyosis
(
LI
)
is
a
form
of
congenital
ichthyosis
that
is
caused
by
mutations
in
the
TGM
1
gene
that
encodes
for
the
transglutaminase
1
(
TG
1
)
enzyme
.
Functional
inactivation
of
TG
1
could
be
due
to
mutations
,
deletion
or
insertions
.
In
this
study
,
we
have
screened
16
patients
affected
by
LI
and
found
six
new
mutations
:
two
transition
/
transversion
(
R
37
G
,
V
112
A
)
,
two
nonsense
mutations
and
two
putative
splice
site
both
leading
to
a
premature
stop
codon
.
The
mutations
are
localized
in
exons
2
(
N-
terminal
domain
)
,
5
,
11
(
central
catalytic
domain
)
,
and
none
is
located
in
the
two
beta
-barrel
C-
terminal
domains
.
In
conclusion
,
this
study
expands
the
current
knowledge
on
TGM
1
mutation
spectrum
,
increasing
the
characterization
of
mutations
would
provide
more
accurate
prenatal
genetic
counselling
for
parents
at
-risk
individuals
.
Diseases
Validation
Diseases presenting
"central catalytic domain"
symptom
lamellar ichthyosis
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