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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
"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