Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
[dystrophic epidermolysis bullosa]
Tunisia
is
a
North
African
country
of
10
million
inhabitants
.
The
native
background
population
is
Berber
.
However
,
throughout
its
history
,
Tunisia
has
been
the
site
of
invasions
and
migratory
waves
of
allogenic
populations
and
ethnic
groups
such
as
Phoenicians
,
Romans
,
Vandals
,
Arabs
,
Ottomans
and
French
.
Like
neighbouring
and
Middle
Eastern
countries
,
the
Tunisian
population
shows
a
relatively
high
rate
of
consanguinity
and
endogamy
that
favor
expression
of
recessive
genetic
disorders
at
relatively
high
rates
.
Many
factors
could
contribute
to
the
recurrence
of
monogenic
morbid
trait
expression
.
Among
them
,
founder
mutations
that
arise
in
one
ancestral
individual
and
diffuse
through
generations
in
isolated
communities
.
We
report
here
on
founder
mutations
in
the
Tunisian
population
by
a
systematic
review
of
all
available
data
from
PubMed
,
other
sources
of
the
scientific
literature
as
well
as
unpublished
data
from
our
research
laboratory
.
We
identified
two
different
classes
of
founder
mutations
.
The
first
includes
founder
mutations
so
far
reported
only
among
Tunisians
that
are
responsible
for
30
genetic
diseases
.
The
second
group
represents
founder
haplotypes
described
in
51
inherited
conditions
that
occur
among
Tunisians
and
are
also
shared
with
other
North
African
and
Middle
Eastern
countries
.
Several
heavily
disabilitating
diseases
are
caused
by
recessive
founder
mutations
.
They
include
,
among
others
,
neuromuscular
diseases
such
as
congenital
muscular
dystrophy
and
spastic
paraglegia
and
also
severe
genodermatoses
such
as
dystrophic
epidermolysis
bullosa
and
xeroderma
pigmentosa
.
This
report
provides
informations
on
founder
mutations
for
73
genetic
diseases
either
specific
to
Tunisians
or
shared
by
other
populations
.
Taking
into
account
the
relatively
high
number
and
frequency
of
genetic
diseases
in
the
region
and
the
limited
resources
,
screening
for
these
founder
mutations
should
provide
a
rapid
and
cost
effective
tool
for
molecular
diagnosis
.
Indeed
,
our
report
should
help
designing
appropriate
measures
for
carrier
screening
,
better
evaluation
of
diseases
burden
and
setting
up
of
preventive
measures
at
the
regional
level
.
Diseases
Validation
Diseases presenting
"recessive genetic disorders"
symptom
dystrophic epidermolysis bullosa
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom