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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
.
