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[A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].
[oculocutaneous albinism]
To
determine
the
genotype
of
a
family
affected
with
oculocutaneous
albinism
(
OCA
)
and
to
provide
genetic
counseling
and
prenatal
diagnosis
.
To
determine
the
genotypes
and
mutational
sites
through
PCR
and
sequencing
for
all
exons
and
exon-intron
junctions
of
4
OCA
genes
in
the
proband
and
the
P
gene
of
her
parents
.
Prenatal
genotyping
of
the
fetus
was
carried
out
using
amniocentesis
sample
.
The
patient
was
diagnosed
with
OCA
2
based
on
a
genotype
of
c
.
1327
G
>
A
/
c
.
2360
C
>
T
.
Her
father
was
heterozygous
for
c
.
2360
C
>
T
,
whilst
her
mother
has
none
of
the
two
mutations
.
c
.
1327
G
>
A
is
therefore
a
maternal
de
novo
mutation
.
Neither
of
the
mutations
was
found
in
the
fetus
.
A
maternally
inherited
de
novo
mutation
c
.
1327
G
>
A
has
been
identified
in
the
patient
.
In
order
to
detect
de
novo
mutations
,
full
sequence
analysis
is
necessary
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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