Rare Diseases Symptoms Automatic Extraction
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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
"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