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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
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
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congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
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proteus syndrome
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scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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