Advances in Clinical and Experimental Medicine,
Год журнала:
2023,
Номер
33(4), С. 361 - 368
Опубликована: Авг. 4, 2023
Background.The
high
sensitivity
of
cells
Fanconi
anemia
(FA)
patients
to
DNA
cross-linking
agents
(clastogens),
such
as
mitomycin
C
(MMC),
was
used
a
screening
tool
in
Polish
children
with
clinical
suspicion
FA.Objectives.The
aim
the
study
compare
chromosome
fragility
between
3
groups,
namely
non-FA,
possible
mosaic
FA
and
patients.
Materials
methods.The
included
100
hematological
manifestations
and/or
congenital
defects
characteristic
FA,
healthy
controls.Blood
samples
obtained
from
participants
were
analyzed
using
an
MMC-induced
chromosomal
breakage
test.Results.Patients
divided
into
subgroups
based
on
MMC
test
results,
non-FA.Thirteen
out
had
true
cellular
phenotype.The
mean
value
breaks/cell
for
higher
than
non-FA
(6.67
±3.92
compared
0.23
±0.18).In
addition,
percentage
spontaneous
aberrations
more
9
times
Conclusions.Our
results
confirmed
that
distinguishes
individuals
affected
by
those
somatic
mosaicism,
bone
marrow
failure
other
reasons,
who
classified
first
diagnostic
step.However,
definitive
differential
diagnosis
requires
follow-up
mutation
testing
analysis
skin
fibroblasts.
Frontiers in Immunology,
Год журнала:
2024,
Номер
15
Опубликована: Июль 24, 2024
Severe
aplastic
anemia
(SAA)
is
a
life-threatening
bone
marrow
failure
syndrome
whose
development
can
be
triggered
by
environmental,
autoimmune,
and/or
genetic
factors.
The
latter
comprises
germ
line
pathogenic
variants
in
genes
that
bring
about
habitually
predisposing
syndromes
as
well
immune
deficiencies
do
so
only
occasionally.
One
of
these
disorders
the
autosomal
dominant
form
chronic
mucocutaneous
candidiasis
(CMC),
which
defined
Acta Pediátrica de México,
Год журнала:
2023,
Номер
44(1), С. 29 - 55
Опубликована: Фев. 14, 2023
La
anemia
de
Fanconi
es
una
enfermedad
rara,
se
presenta
en
1-5/millon
nacidos
vivos.
Los
pacientes
presentan
a
nivel
celular
inestabilidad
cromosómica,
que
la
base
para
su
diagnóstico
y
aunque
clínicamente
son
heterogéneos,
hay
tres
características
generales:
alteraciones
del
desarrollo
físico,
pancitopenia
alto
riesgo
desarrollar
cáncer.
Presenta
heterogeneidad
genética,
ya
origina
por
variantes
patogénicas
alguno
los
22
genes
vía
FA/BRCA,
20
estos
heredan
manera
autosómica
recesiva,
uno
dominante
ligada
al
X.
Debido
esta
heterogeneidad,
el
molecular
complicado,
lo
necesita
estrategia
con
varias
metodologías.
El
primer
abordaje
detección
deleciones
largas
ensayo
amplificación
sondas
dependiente
ligandos
múltiples
(MLPA)
FANCA,
FANCD2,
FANCN/PALB2
FANCB.
casos
no
resueltos
MLPA
canalizan
secuenciación
nueva
generación,
sea
panel
dirigido
(16
FANC),
o
exoma
completo,
finalmente
si
todavía
tenemos
sin
genotipo
realizamos
microarreglos
alta
resolución,
constan
largo
genoma
detectar
polimorfismos
un
solo
nucleótido
variaciones
número
copias,
búsqueda
grandes
duplicaciones
FANC,
así
como
regiones
homocigosidad,
propósito
encontrar
alelos
homocigotos.
En
este
artículo,
presentamos
detallada
realizar
genotipificación
AF
mexicanos,
porcentaje
éxito
80%.
Frontiers in Oncology,
Год журнала:
2023,
Номер
13
Опубликована: Март 2, 2023
Dyskeratosis
congenita
(DKC),
also
known
as
Zinsser–Cole–Engman
syndrome,
is
a
telomeropathy
typically
presenting
triad
of
leukoplakia,
nail
dystrophy,
and
reticular
hyperpigmentation.
Reported
genetic
mutations
linked
to
DKC
include
DKC1
,
TINF2
TERC
TERT
C16orf57
NOLA2
NOLA3
WRAP53/TCAB1
RTEL1
.
Homozygous,
compound
heterozygous,
heterozygous
in
(
regulator
telomere
elongation
helicase
1)
gene
on
chromosome
20q13
are
cause
autosomal
dominant
well
recessive
DKC.
Pathogenic
variants
patients
c.2288G>T
(p.
Gly763Val),
c.3791G>A
Arg1264His),
RTEL
p.
Arg981Trp.
We
report
novel
homozygous
variant
transcript
ID:
ENST00000360203.11,
exon
24,
c.2060C>T
(p.Ala687Val),
patient
with
dystrophic
nails,
reticulate
pigmentation,
positive
family
history
similar
phenotype.
The
variant,
reported
uncertain
significance,
may
therefore
be
considered
diagnostic
for
Pakistani
population.
The Journal of Pediatric Academy,
Год журнала:
2023,
Номер
4(1), С. 1 - 5
Опубликована: Март 31, 2023
Inherited
bone
marrow
failure
syndromes
are
disorders
of
hematopoiesis
that
mostly
encountered
in
childhood.
Taking
the
basisfrom
genetics,
they
characterized
by
pancytopenia,
increased
risk
developing
myelodysplastic
syndrome
and
malignancy.Extrahematopoietic
presentations
observed
often
addition
to
symptoms
related
defective
(also
known
asbone
failure).
The
biology,
clinical
features,
management
main
such
as
Fanconi
anemia,
dyskeratosiscongenita,
Shwachman-Diamond
syndrome,
congenital
amegakaryocytic
thrombocytopenia,
Diamond-Blackfan
andsevere
neutropenia
briefly
summarized
this
review.
Advances in Clinical and Experimental Medicine,
Год журнала:
2023,
Номер
33(4), С. 361 - 368
Опубликована: Авг. 4, 2023
Background.The
high
sensitivity
of
cells
Fanconi
anemia
(FA)
patients
to
DNA
cross-linking
agents
(clastogens),
such
as
mitomycin
C
(MMC),
was
used
a
screening
tool
in
Polish
children
with
clinical
suspicion
FA.Objectives.The
aim
the
study
compare
chromosome
fragility
between
3
groups,
namely
non-FA,
possible
mosaic
FA
and
patients.
Materials
methods.The
included
100
hematological
manifestations
and/or
congenital
defects
characteristic
FA,
healthy
controls.Blood
samples
obtained
from
participants
were
analyzed
using
an
MMC-induced
chromosomal
breakage
test.Results.Patients
divided
into
subgroups
based
on
MMC
test
results,
non-FA.Thirteen
out
had
true
cellular
phenotype.The
mean
value
breaks/cell
for
higher
than
non-FA
(6.67
±3.92
compared
0.23
±0.18).In
addition,
percentage
spontaneous
aberrations
more
9
times
Conclusions.Our
results
confirmed
that
distinguishes
individuals
affected
by
those
somatic
mosaicism,
bone
marrow
failure
other
reasons,
who
classified
first
diagnostic
step.However,
definitive
differential
diagnosis
requires
follow-up
mutation
testing
analysis
skin
fibroblasts.
