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Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
[homocystinuria without methylmalonic aciduria]
Methylmalonic
aciduria
(
MMA
)
and
homocystinuria
,
cblC
type
(
MIM
277400
)
is
the
most
frequent
inborn
error
of
vitamin
B
(
12
)
.
The
recent
identification
of
the
disease
gene
,
MMACHC
,
has
permitted
preliminary
genotype-phenotype
correlations
.
We
studied
24
Italian
and
17
Portuguese
patients
with
cblC
defect
to
illustrate
the
spectrum
of
mutations
in
a
southern
European
population
and
discuss
the
impact
that
mutation
identification
has
on
routine
diagnostic
procedures
.
Since
the
metabolic
defect
raises
the
serum
levels
of
homocysteine
,
we
also
tested
if
variants
in
MTHFR
-playing
a
key
role
in
homocysteine
remethylation
pathway-could
act
as
genetic
modifier
in
cblC
defect
.
We
found
that
the
c
.
271
dupA
(
accounting
for
55
%
of
the
MMACH
alleles
in
our
cohort
)
followed
by
c
.
394
C
>
T
(
16
%
)
and
c
.
331
C
>
T
(
9
%
)
were
the
most
frequent
mutations
.
In
our
study
we
also
identified
a
novel
mutation
(
c
.
544
T
>
C
)
.
On
the
other
hand
,
the
MTHFR
genotype
did
not
appear
to
influence
age
at
onset
,
the
clinical
phenotype
and
outcome
of
patients
with
cblC
defect
.
This
study
shows
that
mutation
screening
for
the
most
common
MMACH
mutations
occurring
in
early
-onset
forms
(
c
.
271
dupA
and
c
.
331
C
>
T
)
seems
to
have
a
high
diagnostic
yield
in
a
southern
European
population
with
cblC
defect
.
Although
the
identification
of
the
gene
defect
per
se
does
not
predict
completely
time
and
severity
of
disease
appearance
,
our
data
corroborate
the
importance
of
a
molecular
testing
to
offer
accurate
prenatal
diagnosis
to
couples
at
high
risk
of
having
affected
children
.
Diseases
Validation
Diseases presenting
"frequent inborn error"
symptom
homocystinuria without methylmalonic aciduria
phenylketonuria
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