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Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.
[lamellar ichthyosis]
To
determine
the
molecular
basis
of
familial
ichthyosis
in
three
Omani
families
.
Nine
patients
from
three
consanguineous
families
,
A
,
B
,
and
C
,
were
born
with
typical
features
of
lamellar
ichthyosis
subtype
including
collodion
membrane
and
maintained
ectropion
,
and
epidermal
scaling
through
their
childhood
.
The
4
patients
from
family
B
had
more
severe
symptoms
requiring
neonatal
critical
care
and
subsequent
regular
treatment
with
emollients
,
eye
lubricants
,
and
low
-dose
acitretin
.
DNA
was
extracted
from
peripheral
blood
by
standard
methods
.
The
samples
were
initially
genotyped
to
screen
known
loci
linked
to
recessive
ichthyosis
on
chromosomes
2
q
33
-
32
(
ABCA
12
)
,
14
q
11
(
TGM
1
)
,
and
19
p
12
-
q
12
using
commercially
supplied
polymorphic
fluorescent
microsatellite
markers
.
TGM
1
was
analyzed
by
direct
sequencing
for
disease-associated
mutations
.
Two
known
pathogenic
mutations
in
TGM
1
were
detected
:
p
.
Gly
278
Arg
in
families
A
and
B
and
p
.
A
rg
396
H
is
in
family
C
.
These
two
mutations
were
segregating
in
an
autosomal
recessive
mode
of
inheritance
.
Two
known
pathogenic
TGM
1
mutations
were
detected
in
three
large
consanguineous
Omani
families
with
lamellar
ichthyosis
.
This
study
confirmed
the
geographic
distribution
of
known
mutations
to
an
apparently
unrelated
population
.
Diseases
Validation
Diseases presenting
"commercially supplied polymorphic fluorescent microsatellite markers"
symptom
lamellar ichthyosis
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