C1GALT1C1‐Associated Mosaic Disorder of Glycosylation in a Female
Journal of Inherited Metabolic Disease,
Journal Year:
2025,
Volume and Issue:
48(2)
Published: Feb. 13, 2025
Cosmc,
encoded
by
the
X-linked
C1GALT1C1,
is
a
molecular
chaperone
in
endoplasmic
reticulum
and
master
regulator
of
O-glycosylation
mammalian
glycoproteins.
Recently,
we
described
germline
mutation
C1GALT1C1
two
male
patients,
giving
rise
to
congenital
disorder
glycosylation-COSMC-CDG.
Here,
have
identified
female
patient
with
de
novo
mosaic
variant
(c.202C>T,
p.Arg68*),
which
results
truncated
nonfunctional
form
Cosmc
(Cosmc-R68).
The
mosaic,
as
~27%
her
buccal
cells
carry
mutation.
now
5-year
old
who
presented
nonimmune
hydrops
fetalis.
As
essential
for
generation
normal
O-glycans
through
regulating
T-synthase
activity,
thereby
enabling
formation
universal
Core
1
O-glycan
Galβ1-3GalNAcα1-Ser/Thr
(T-antigen),
loss
leads
expression
unusual
precursor
termed
Tn-antigen
(CD175)
(GalNAcα1-Ser/Thr).
Owing
mutational
mosaicism,
only
significant
minority
would
exhibit
abnormal
O-glycosylation.
Analysis
red
blood
(RBCs),
leukocytes,
serum
from
this
indicated
reduced
proteins
lower
activity.
Consistent
these
findings,
observed
glycoproteins
RBCs
patient,
along
elevated
compared
controls.
This
case
represents
first
description
true
loss-of-function
that
is,
one
occurred
postzygotically
during
embryogenesis,
raises
interesting
questions
about
role
fetal
development
its
consequences
on
clinical
presentation.
Language: Английский
Evaluation of serum transferrin microheterogeneity for the diagnosis of congenital N-glycosylation defects
SCT Proceedings in Interdisciplinary Insights and Innovations.,
Journal Year:
2024,
Volume and Issue:
3, P. 374 - 374
Published: Dec. 31, 2024
Introduction:
transferrin
is
a
glycoprotein
produced
in
the
liver,
whose
function
to
transport
iron
tissues.
It
has
been
used
mainly
for
differential
diagnosis
of
anemias
as
biomarker.
There
are
different
isoforms
due
difference
their
glycosylation
patterns.
This
microheterogeneity
allowed
its
use
biomarker
Congenital
Disorders
Glycosylation;
genetic
diseases
result
mutations
genes
that
encode
enzymes
post-translational
mechanism
protein
glycosylation.Objective:
evaluate
serum
Glycosylation
CubaMethods:
descriptive
and
cross-sectional
study
was
developed
at
National
Center
Medical
Genetics
period
from
2016
2022.
The
analytical
method
isoelectric
focusing
with
immunofixation
described
by
Van
Eijik
et
al
1983.
Serum
samples
26
patients
multisystem
clinical
symptoms
suspicion
having
disease
without
definitive
di-agnosis
were
processedResults:
IEF
us
determine
pattern
Tf.
An
altered
Tf
found
four
samples,
two
type
I
II.Conclusions:
glycoforms
positive
patients,
thus
demonstrating
presence
Protein
N-glycosylation
Cuba
Language: Английский