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Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.
[cohen syndrome]
Cohen
syndrome
(
CS
)
is
an
autosomal
recessive
disease
caused
by
mutations
in
the
COH
1
gene
.
It
is
characterized
by
intellectual
disability
,
hypotonia
,
joint
hyperlaxity
,
severe
myopia
,
characteristic
facial
dysmorphisms
and
,
in
some
cases
,
intermittent
isolated
neutropenia
.
We
investigated
an
Italian
patient
with
CS
together
with
his
family
.
Genetic
analysis
disclosed
2
novel
mutations
:
the
first
is
an
intronic
mutation
(
c
.
8697
-
9
A
>
G
)
creating
a
new
splice
site
8
nucleotides
upstream
,
and
the
second
is
a
duplication
of
1
base
(
c
.
10156
dupA
)
generating
a
premature
stop
codon
.
The
compound
heterozygous
mutations
explain
the
proband
's
phenotype
and
improved
the
knowledge
of
genotype-phenotype
correlation
.