Mutation identification of Fabry disease in families with other lysosomal storage disorders
Identifieur interne : 001003 ( Istex/Corpus ); précédent : 001002; suivant : 001004Mutation identification of Fabry disease in families with other lysosomal storage disorders
Auteurs : A. Zampetti ; L. Fania ; D. Antuzzi ; F. Giurdanella ; M. Gnarra ; F. Bertola ; S. Lualdi ; M. Filocamo ; A. Morrone ; 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
Links to Exploration step
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<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>
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<correspondenceTo><lineatedText><line>Corresponding author: Anna Zampetti, MD, PhD, Department of Dermatology, Policlinico A. Gemelli, Università Cattolica del Sacro Cuore, Largo Gemelli 8, 00168 Rome, Italy.</line>
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<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.</abstract>
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