Monozygotic female twins discordant for phenotype of Wilson's disease
Identifieur interne : 000A29 ( Main/Exploration ); précédent : 000A28; suivant : 000A30Monozygotic female twins discordant for phenotype of Wilson's disease
Auteurs : Anna Członkowska [Pologne] ; Gra Yna Gromadzka [Pologne] ; Grzegorz Chabik [Pologne]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-05-15.
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Abstract
Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of the copper‐transporting protein adenosine triphosphatase 7B (ATP‐ase 7B). The disease is caused by mutations in ATP7B gene. It seems that the type of mutation in ATP7B only to some degree determines phenotypic manifestation of WD. We examined two pairs of monozygotic twins discordant for WD phenotype. The first set of twins were ATP7B compound heterozygotes c.3207C>A (p.H1069Q)/c.1211_1212insA (p.N404Kfs). The index case developed severe liver failure followed by depressive symptoms, dysarthria, and tremor at the age of 36. Her sister remained presymptomatic at diagnosis at the age of 39. The second twins were ATP7B c.3207C.A (p.H1069Q) homozygotes. The index case presented with dysarthria and tremor at the age of 26. Her sister remained clinically presymptomatic at diagnosis at the age of 28. We concluded that the phenotypic characteristics of WD are possibly attributable to epigenetic/environmental factors. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22474
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-05-15">2009-05-15</date><biblScope unit="volume">24</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1066">1066</biblScope><biblScope unit="page" to="1069">1069</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">E067BB7AFFA3B4ABCD91931908635737F50C8DA9</idno><idno type="DOI">10.1002/mds.22474</idno><idno type="ArticleID">MDS22474</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP7B</term><term>Wilson's disease</term><term>genotype</term><term>monozygotic twins</term><term>phenotype</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of the copper‐transporting protein adenosine triphosphatase 7B (ATP‐ase 7B). The disease is caused by mutations in ATP7B gene. It seems that the type of mutation in ATP7B only to some degree determines phenotypic manifestation of WD. We examined two pairs of monozygotic twins discordant for WD phenotype. The first set of twins were ATP7B compound heterozygotes c.3207C>A (p.H1069Q)/c.1211_1212insA (p.N404Kfs). The index case developed severe liver failure followed by depressive symptoms, dysarthria, and tremor at the age of 36. Her sister remained presymptomatic at diagnosis at the age of 39. The second twins were ATP7B c.3207C.A (p.H1069Q) homozygotes. The index case presented with dysarthria and tremor at the age of 26. Her sister remained clinically presymptomatic at diagnosis at the age of 28. We concluded that the phenotypic characteristics of WD are possibly attributable to epigenetic/environmental factors. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Pologne</li></country></list><tree><country name="Pologne"><noRegion><name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name></noRegion><name sortKey="Chabik, Grzegorz" sort="Chabik, Grzegorz" uniqKey="Chabik G" first="Grzegorz" last="Chabik">Grzegorz Chabik</name><name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name><name sortKey="Gromadzka, Gra Yna" sort="Gromadzka, Gra Yna" uniqKey="Gromadzka G" first="Gra Yna" last="Gromadzka">Gra Yna Gromadzka</name><name sortKey="Gromadzka, Gra Yna" sort="Gromadzka, Gra Yna" uniqKey="Gromadzka G" first="Gra Yna" last="Gromadzka">Gra Yna Gromadzka</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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