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Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
[phenylketonuria]
The
mutational
spectrum
of
the
phenylalanine
hydroxylase
gene
(
PAH
)
in
Mexico
is
unknown
,
although
it
has
been
suggested
that
PKU
variants
could
have
a
differential
geographical
distribution
.
Genotype-phenotype
correlations
and
genotype-based
predictions
of
responsiveness
to
tetrahydrobiopterin
(
BH
4
)
have
never
been
performed
.
We
sequenced
the
PAH
gene
and
determined
the
geographic
origin
of
each
allele
,
mini-haplotype
associated
,
genotype-phenotype
correlations
and
genotype-based
prediction
of
BH
4
responsiveness
in
48
Mexican
patients
.
The
mutational
spectrum
included
34
variants
with
c
.
60
+
5
G
>
T
being
the
most
frequent
(
20
.
8
%
)
and
linked
to
haplotype
4
.
3
possibly
because
of
a
founder
effect
and
/
or
genetic
drift
.
Two
new
variants
were
found
c
.
1
A
>
T
and
c
.
969
+
6
T
>
C
.
The
genotype-phenotype
correlation
was
concordant
in
70
.
8
%
.
The
genotype-based
prediction
to
BH
4
-
responsiveness
was
41
.
7
%
,
this
information
could
be
useful
for
the
rational
selection
of
candidates
for
BH
4
testing
and
therapy
.
