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Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.
[oculocutaneous albinism]
Severe
congenital
neutropenia
type
4
(
SCN
4
)
is
an
autosomal
recessive
disorder
caused
by
mutations
in
the
third
subunit
of
the
enzyme
glucose-
6
-
phosphatase
(
G
6
PC
3
)
.
Its
core
features
are
congenital
neutropenia
and
a
prominent
venous
skin
pattern
,
and
affected
individuals
have
variable
birth
defects
.
Oculocutaneous
albinism
type
4
(
OCA
4
)
is
caused
by
autosomal
recessive
mutations
in
SLC
45
A
2
.
We
report
a
sister
and
brother
from
Newfoundland
,
Canada
with
complex
phenotypes
.
The
sister
was
previously
reported
by
Cullinane
et
al
.
,
2011
.
We
performed
homozygosity
mapping
,
next
generation
sequencing
and
conventional
Sanger
sequencing
to
identify
mutations
that
cause
the
phenotype
in
this
family
.
We
have
also
summarized
clinical
data
from
49
previously
reported
SCN
4
cases
with
overlapping
phenotypes
and
interpret
the
medical
histories
of
these
siblings
in
the
context
of
the
literature
.
The
siblings
'
phenotype
is
due
in
part
to
a
homozygous
mutation
in
G
6
PC
3
,
[
c
.
829
C
>
T
,
p
.
Gln
277
X
]
.
Their
ages
are
38
and
37
years
respectively
and
they
are
the
oldest
SCN
4
patients
published
to
date
.
Both
presented
with
congenital
neutropenia
and
later
developed
Crohn
disease
.
We
suggest
that
the
latter
is
a
previously
unrecognized
SCN
4
manifestation
and
that
not
all
affected
individuals
have
an
intellectual
disability
.
The
sister
also
has
a
homozygous
mutation
in
SLC
45
A
2
,
which
explains
her
severe
oculocutaneous
hypopigmentation
.
Her
brother
carried
one
SLC
45
A
2
mutation
and
was
diagnosed
with
"
partial
OCA
"
in
childhood
.
This
family
highlights
that
apparently
novel
syndromes
can
in
fact
be
caused
by
two
known
autosomal
recessive
disorders
.
Diseases
Validation
Diseases presenting
"intellectual disability"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aniridia
child syndrome
cohen syndrome
cowden syndrome
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
monosomy 21
oculocutaneous albinism
oligodontia
phenylketonuria
proteus syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated