Titre |
Tumoral calcinosis due to GALNTS3c.516 : mutation in a black african family |
Auteurs |
LALEYE OLABISSI ANATOLE A. [1],
ALAO MODJÉRÉ OLA MAROUFOU JULES [2],
GBESSI GASPARD DANSOU [3],
ADJAGBA Marius [4],
MARCHE M. [5],
COUPRY I. [6],
REDONNET VERNHET I. [7],
LEPREUX S. [8],
AYIVI BLAISE [9],
DARBOUX RAPHAËL BARTHÉLÉMY [10],
LACOMBE D. [11],
ARVEILER B. [1],
|
Journal: |
Genetic counseling |
Catégorie Journal: |
Internationale |
Impact factor: |
0 |
Volume Journal: |
16 |
DOI: |
|
Resume |
Summary:
Tumora'
Calcinosis
dlle
la
GALNT3C516-2A
>T
mulation
in
a blackAfricanfamily:
Familial
Tumoral
Caleinosis(FTC)
is
a rare
autosomal
reeessive
disorder
of
the
phosphocalcie
metabolism
eaused
by
mutations
in
the
FGF23
or
GALNT3
genes.
We
have
identified
a Benincse
family
in
whieh
two
brothers
present
FTC
caused
by
a homozygous
A>
T transversion
at
the
aCcq1tor
splice
site
in
intron
1
of
GALNf3
gene.
Wc
report
on
the
elinical,
bioehemieal,
histopathological
and
molecular
spectrum
of
the
disorder
in this
farnily.
The
partieularly
severe
phenotype,
the
amelogenesis
imperfeeta,
and
the
earbapatitc
deposit
observed
in
thesc
patients,
seem
to
be
eharaetcristie
of
our
observations.
.
.
Key-words:
Fainilial
Tumoral
Calcinosis-
Phosphocalcîc
metabolism'disorder
-
CALNH
mutation |
Mots clés |
Tumoral calcinosis ; |
Pages |
183 - 192 |
Fichier |
(PDF) |