Rare Diseases Symptoms Automatic Extraction
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Our Team
PAX6 analysis of two sporadic patients from southern China with classic aniridia.
[aniridia]
To
investigate
the
paired
box
6
(
PAX
6
)
gene
in
two
sporadic
patients
from
southern
China
presenting
with
classic
aniridia
.
The
two
sporadic
patients
underwent
complete
physical
and
ophthalmic
examinations
.
Genomic
DNA
was
extracted
from
the
leukocytes
of
the
peripheral
blood
collected
from
the
families
of
the
two
sporadic
patients
and
100
unrelated
control
subjects
from
the
same
population
.
Exons
4
-
13
of
PAX
6
were
amplified
by
polymerase
chain
reaction
(
PCR
)
and
sequenced
directly
.
The
ophthalmic
examinations
included
best-corrected
visual
acuity
,
slit-lamp
examination
,
fundus
examination
,
optical
coherence
tomography
,
and
Pentacam
and
Goldmann
perimetry
.
The
two
patients
were
affected
with
aniridia
accompanied
by
nystagmus
.
A
heterozygous
PAX
6
frameshift
mutation
in
exon
7
,
c
.
375
_
376
delAG
(
p
.
Arg
125
SerfsX
7
)
,
was
identified
in
sporadic
patient
1
and
not
in
any
of
the
unaffected
family
members
and
normal
controls
.
One
novel
mutation
in
exon
10
,
c
.
868
_
871
dupAGTT
(
p
.
Phe
291
X
)
,
was
detected
in
sporadic
patient
2
.
The
frameshift
mutation
we
identified
has
not
previously
been
reported
either
in
China
or
abroad
.
Although
PAX
6
mutations
and
polymorphisms
have
been
reported
in
various
ethnic
groups
,
we
report
,
for
the
first
time
,
the
identification
of
one
new
PAX
6
mutation
in
Chinese
aniridia
patient
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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