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A random Abstract
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Our Team
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.
[lamellar ichthyosis]
 
Mutations
in
six
genes
have
been
identified
in
autosomal
recessive
congenital
ichthyosis
(
ARCI
)
.
To
date
,
few
studies
have
analysed
the
spectrum
of
these
mutations
in
specific
populations
.
We
have
studied
the
characteristics
of
patients
with
ARCI
in
Galicia
(
NW
Spain
)
.
Methods
 
We
recruited
patients
by
contacting
all
dermatology
departments
of
Galicia
and
the
Spanish
patient
organization
for
ichthyosis
.
TGM
1
,
ALOX
12
B
,
ALOXE
3
,
NIPAL
4
and
CYP
4
F
2
2
were
analysed
in
the
patients
and
their
relatives
.
We
identified
23
patients
with
ARCI
and
estimated
a
prevalence
of
1
 
:
 
122
 
000
.
Twenty
of
the
patients
were
studied
.
Seventeen
of
them
were
clinically
categorized
as
having
lamellar
ichthyosis
(
LI
)
and
three
as
having
congenital
ichthyosiform
erythroderma
(
CIE
)
.
TGM
1
and
ALOXE
3
mutations
were
identified
in
12
/
16
(
75
%
)
probands
whereas
no
ALOX
12
B
,
NIPAL
4
and
CYP
4
F
2
2
mutations
were
found
.
TGM
1
mutations
were
found
in
11
/
13
(
85
%
)
of
LI
probands
.
ALOXE
3
mutations
were
identified
in
a
single
patient
with
CIE
.
Remarkably
,
mutations
p
.
Arg
760
X
,
p
.
Asp
408
ValfsX
21
and
c
.
984
+
1
G
>
A
of
TGM
1
were
present
in
six
,
four
and
two
families
,
accounting
for
41
%
,
23
%
and
14
%
of
all
TGM
1
mutant
alleles
,
respectively
.
The
high
percentage
of
patients
with
the
same
TGM
1
mutations
,
together
with
the
high
number
of
homozygous
probands
(
64
%
)
,
indicates
the
existence
of
a
strong
founder
effect
in
our
population
.
Diseases
Validation
Diseases presenting
"congenital ichthyosis"
symptom
aniridia
harlequin ichthyosis
lamellar ichthyosis
This symptom has already been validated
