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Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.
[oligodontia]
The
genetic
and
audiological
data
support
the
hypothesis
that
the
p
.
M
34
T
is
a
pathogenic
mutation
in
the
Finnish
population
.
The
p
.
M
34
T
mutation
displays
an
autosomal
recessive
pattern
of
inheritance
and
is
associated
with
mild
to
moderate
nonsyndromic
sensorineural
hearing
impairment
(
SNHI
)
in
the
homozygous
state
.
The
audiograms
often
display
a
hearing
impairment
notch
at
2
-
4
kHz
in
young
patients
,
which
may
aid
in
the
early
diagnosis
.
The
aim
of
the
study
was
to
assess
whether
the
p
.
M
34
T
mutation
in
the
GJB
2
gene
may
associate
with
nonsyndromic
SNHI
.
We
systematically
reviewed
the
families
with
children
diagnosed
with
nonsyndromic
SNHI
caused
by
a
homozygous
p
.
M
34
T
mutation
at
the
Kuopio
and
Oulu
University
Hospital
Clinics
.
The
children
were
re
-examined
and
audiological
and
genetic
data
were
obtained
from
their
parents
and
healthy
siblings
to
study
genotype-phenotype
correlation
.
We
describe
11
patients
from
6
families
including
5
sibling
pairs
from
6
to
23
years
of
age
with
homozygous
p
.
M
34
T
genotype
all
having
mild
nonsyndromic
SNHI
.
In
addition
,
we
found
three
patients
with
compound
p
.
M
34
T
mutation
also
exhibiting
mild
to
moderate
SNHI
.
Diseases
Validation
Diseases presenting
"hearing impairment"
symptom
22q11.2 deletion syndrome
achondroplasia
benign recurrent intrahepatic cholestasis
canavan disease
congenital diaphragmatic hernia
dentinogenesis imperfecta
hirschsprung disease
kabuki syndrome
kallmann syndrome
monosomy 21
oligodontia
pendred syndrome
zellweger syndrome
This symptom has already been validated