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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
.