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A random Abstract
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Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene.
[lamellar ichthyosis]
The
majority
of
cases
of
Lamellar
ichthyosis
(
LI
)
are
caused
by
mutations
in
the
transglutaminase-
1
(
TGM
1
)
gene
.
The
mutations
in
the
beta
-barrel
domains
of
the
TGM
1
gene
are
found
very
infrequently
and
several
authors
have
suggested
that
these
domains
are
not
essential
for
the
function
of
the
enzyme
.
Other
authors
have
postulated
that
mutations
in
these
loci
are
pathogenic
but
they
imply
a
less
severe
clinical
picture
of
LI
.
We
report
a
patient
with
a
severe
phenotype
of
LI
who
had
a
homozygous
mutation
affecting
the
beta
-barrel
2
domain
of
the
TGM
1
.
T
his
finding
indicates
that
the
integrity
of
beta
-barrel
domains
is
important
for
the
correct
function
of
the
enzyme
and
that
we
are
still
far
away
from
a
consistent
genotype-phenotype
correlation
.
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
