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Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.
[lamellar ichthyosis]
Lamellar
ichthyosis
(
LI
,
MIM
#
242300
)
is
a
severe
autosomal
recessive
genodermatosis
present
at
birth
in
the
form
of
collodion
membrane
covering
the
neonate
.
Mutations
in
the
TGM
1
gene
encoding
transglutaminase-
1
are
a
major
cause
of
LI
.
In
this
study
molecular
analysis
of
two
LI
Tunisian
patients
revealed
a
common
nonsense
c
.
788
G
>
A
mutation
in
TGM
1
gene
.
The
identification
of
a
cluster
of
LI
pedigrees
carrying
the
c
.
788
G
>
A
mutation
in
a
specific
area
raises
the
question
of
the
origin
of
this
mutation
from
a
common
ancestor
.
We
carried
out
a
haplotype-based
analysis
by
way
of
genotyping
4
microsatellite
markers
and
8
SNPs
flanking
and
within
the
TGM
1
gene
spanning
a
region
of
6
Mb
.
Haplotype
reconstruction
from
genotypes
of
all
members
of
the
affected
pedigrees
indicated
that
all
carriers
for
the
mutation
c
.
788
G
>
A
harbored
the
same
haplotype
,
indicating
common
ancestor
.
The
finding
of
a
founder
effect
in
a
rare
disease
is
essential
for
the
genetic
diagnosis
and
the
genetic
counselling
of
affected
LI
pedigrees
in
Tunisia
.
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