Mutation identification of Fabry disease in families with other lysosomal storage disorders
Identifieur interne : 003B07 ( Main/Exploration ); précédent : 003B06; suivant : 003B08Mutation identification of Fabry disease in families with other lysosomal storage disorders
Auteurs : A. Zampetti ; L. Fania ; D. Antuzzi [Italie] ; F. Giurdanella ; M. Gnarra ; F. Bertola [Italie] ; S. Lualdi [Italie] ; M. Filocamo [Italie] ; A. Morrone [Italie] ; C. FelicianiSource :
- Clinical Genetics [ 0009-9163 ] ; 2013-09.
Abstract
Fabry disease (FD) is an X‐linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme α‐galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underestimated. We report the cases of two unrelated Italian families in whom FD was incidentally diagnosed in two females. In both families, the risk for other lysosomal disorders was known from other members affected by fucosidosis or mucopolysaccharidosis I Hurler/Scheie. Some subjects were simultaneously heterozygous for Fabry and the other lysosomal deficiency. Our study shows that the risk for more than one LSDs can occur in a family pedigree. The diagnosis of Fabry in female probands represents a diagnostic challenge, as symptoms and signs can be variably present because of the random X‐chromosome inactivation.
Url:
DOI: 10.1111/cge.12071
Affiliations:
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Giurdanella</name><affiliation><wicri:noCountry code="no comma">Department of Dermatology</wicri:noCountry></affiliation></author><author><name sortKey="Gnarra, M" sort="Gnarra, M" uniqKey="Gnarra M" first="M" last="Gnarra">M. Gnarra</name><affiliation><wicri:noCountry code="no comma">Department of Dermatology</wicri:noCountry></affiliation></author><author><name sortKey="Bertola, F" sort="Bertola, F" uniqKey="Bertola F" first="F" last="Bertola">F. Bertola</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Consortium for Human Molecular Genetics, University of Milano‐Bicocca, Monza</wicri:regionArea><wicri:noRegion>Monza</wicri:noRegion></affiliation></author><author><name sortKey="Lualdi, S" sort="Lualdi, S" uniqKey="Lualdi S" first="S" last="Lualdi">S. Lualdi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. 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Morrone</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory for Molecular and Cell Biology of Neurologic and Metabolic Disorders, Paediatric Neurology Unit, Meyer Children's Hospital, Florence</wicri:regionArea><wicri:noRegion>Florence</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Sciences for Woman and Child's Health, University of Florence, Florence</wicri:regionArea><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Feliciani, C" sort="Feliciani, C" uniqKey="Feliciani C" first="C" last="Feliciani">C. Feliciani</name><affiliation><wicri:noCountry code="no comma">Department of Dermatology</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><imprint><biblScope unit="vol">84</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="281">281</biblScope><biblScope unit="page" to="285">285</biblScope><biblScope unit="page-count">5</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2013-09">2013-09</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Fabry disease (FD) is an X‐linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme α‐galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underestimated. We report the cases of two unrelated Italian families in whom FD was incidentally diagnosed in two females. In both families, the risk for other lysosomal disorders was known from other members affected by fucosidosis or mucopolysaccharidosis I Hurler/Scheie. Some subjects were simultaneously heterozygous for Fabry and the other lysosomal deficiency. Our study shows that the risk for more than one LSDs can occur in a family pedigree. The diagnosis of Fabry in female probands represents a diagnostic challenge, as symptoms and signs can be variably present because of the random X‐chromosome inactivation.</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Latium</li></region><settlement><li>Rome</li></settlement></list><tree><noCountry><name sortKey="Fania, L" sort="Fania, L" uniqKey="Fania L" first="L" last="Fania">L. 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Lualdi</name><name sortKey="Morrone, A" sort="Morrone, A" uniqKey="Morrone A" first="A" last="Morrone">A. Morrone</name><name sortKey="Morrone, A" sort="Morrone, A" uniqKey="Morrone A" first="A" last="Morrone">A. Morrone</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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