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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
"severe clinical picture"
symptom
lamellar ichthyosis
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