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Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.
[lamellar ichthyosis]
Autosomal
recessive
congenital
ichthyosis
(
ARCI
)
is
a
heterogeneous
group
of
diseases
of
keratinization
,
characterized
primarily
by
abnormal
skin
scaling
over
the
whole
body
surface
.
Recently
,
ARCI
has
been
designated
to
include
the
major
forms
of
lamellar
ichthyosis
(
LI
)
,
congenital
ichthyosiform
erythroderma
(
CIE
)
and
harlequin
ichthyosis
.
The
first
two
conditions
are
the
most
common
major
clinical
subtypes
,
and
both
are
caused
principally
by
mutations
in
the
transglutaminase
1
gene
,
TGM
1
,
although
other
genes
may
be
responsible
in
some
cases
.
To
identify
the
genetic
mutations
underlying
LI
in
a
Chinese
family
with
LI
,
and
to
review
all
the
known
TGM
1
mutations
in
Chinese
patients
with
ARCI
.
The
proband
had
the
severe
classic
LI
phenotype
,
and
was
a
member
of
a
four
-generation
family
with
close
blood
relationships
.
We
sequenced
the
DNA
of
the
patients
and
close
relatives
.
We
also
reviewed
13
Chinese
patients
with
ARCI
from
8
reported
families
,
comprising
10
patients
with
LI
,
2
with
CIE
and
1
with
bathing
suit
ichthyosis
.
We
characterized
14
different
TGM
1
mutations
.
Six
of
these
were
reported
in
other
ethnic
groups
initially
and
later
in
Chinese
patients
,
while
the
remaining
eight
were
first
described
in
Chinese
patients
.
Of
the
latter
,
five
have
been
reported
only
in
Chinese
patients
,
while
the
remaining
three
have
also
been
reported
in
other
ethnic
groups
.
This
study
expands
the
current
spectrum
on
TGM
1
mutation
and
increases
the
knowledge
of
TGM
1
mutation
characteristics
.
Diseases
Validation
Diseases presenting
"mutations in the transglutaminase 1 gene, tgm1"
symptom
harlequin ichthyosis
lamellar ichthyosis
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