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A random Abstract
Our Project
Our Team
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
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated