Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Identifieur interne : 000113 ( Main/Merge ); précédent : 000112; suivant : 000114Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Auteurs : Sandy Hsu ; Renee Sears ; Roberta Lemos ; Beatriz Quintáns ; Alden Huang ; Elizabeth Spiteri ; Lisette Nevarez ; Catherine Mamah ; Mayana Zatz ; Kerrie Pierce ; Janice Fullerton ; John Adair ; Jon Berner ; Matthew Bower ; Henry Brodaty ; Olga Carmona ; Valerija Dobrici ; Brent Fogel ; Daniel García ; Jill Goldman ; John Goudreau ; Suellen Hopfer ; Milena Jankovi ; Serge Jaumà ; Joanna Jen ; Suppachok Kirdlarp ; Joerg Klepper ; Vladimir Kosti ; Anthony Lang ; Agnès Linglart ; Melissa Maisenbacher ; Bala Manyam ; Pietro Mazzoni ; Zofia Miedzybrodzka ; Witoon Mitarnun ; Philip Mitchell ; Jennifer Mueller ; Ivana Novakovi ; Martin Paucar ; Henry Paulson ; Sheila Simpson ; Per Svenningsson ; Paul Tuite ; Jerrold Vitek ; Suppachok Wetchaphanphesat ; Charles Williams ; Michele Yang ; Peter Schofield ; João De ; María Sobrido ; Daniel Geschwind ; Giovanni CoppolaSource :
- Neurogenetics [ 1364-6745 ] ; 2013.
Abstract
Familial idiopathic basal ganglia calcification (IBGC) or Fahr’s
disease is a rare neurodegenerative disorder characterized by calcium deposits
in the basal ganglia and other brain regions, which is associated with
neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous
and typically transmitted in an autosomal dominant fashion. We performed a
mutational analysis of
Url:
DOI: 10.1007/s10048-012-0349-2
PubMed: 23334463
PubMed Central: 4023541
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PMC:4023541Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>SLC20A2</italic>
are a major cause of familial
idiopathic basal ganglia calcification</title>
<author><name sortKey="Hsu, Sandy Chan" sort="Hsu, Sandy Chan" uniqKey="Hsu S" first="Sandy" last="Hsu">Sandy Hsu</name>
</author>
<author><name sortKey="Sears, Renee L" sort="Sears, Renee L" uniqKey="Sears R" first="Renee" last="Sears">Renee Sears</name>
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<author><name sortKey="Lemos, Roberta R" sort="Lemos, Roberta R" uniqKey="Lemos R" first="Roberta" last="Lemos">Roberta Lemos</name>
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<author><name sortKey="Quintans, Beatriz" sort="Quintans, Beatriz" uniqKey="Quintans B" first="Beatriz" last="Quintáns">Beatriz Quintáns</name>
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<author><name sortKey="Huang, Alden" sort="Huang, Alden" uniqKey="Huang A" first="Alden" last="Huang">Alden Huang</name>
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<author><name sortKey="Spiteri, Elizabeth" sort="Spiteri, Elizabeth" uniqKey="Spiteri E" first="Elizabeth" last="Spiteri">Elizabeth Spiteri</name>
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<author><name sortKey="Nevarez, Lisette" sort="Nevarez, Lisette" uniqKey="Nevarez L" first="Lisette" last="Nevarez">Lisette Nevarez</name>
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<author><name sortKey="Zatz, Mayana" sort="Zatz, Mayana" uniqKey="Zatz M" first="Mayana" last="Zatz">Mayana Zatz</name>
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<author><name sortKey="Pierce, Kerrie D" sort="Pierce, Kerrie D" uniqKey="Pierce K" first="Kerrie" last="Pierce">Kerrie Pierce</name>
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<author><name sortKey="Fullerton, Janice M" sort="Fullerton, Janice M" uniqKey="Fullerton J" first="Janice" last="Fullerton">Janice Fullerton</name>
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<author><name sortKey="Berner, Jon E" sort="Berner, Jon E" uniqKey="Berner J" first="Jon" last="Berner">Jon Berner</name>
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<author><name sortKey="Carmona, Olga" sort="Carmona, Olga" uniqKey="Carmona O" first="Olga" last="Carmona">Olga Carmona</name>
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<author><name sortKey="Dobrici, Valerija" sort="Dobrici, Valerija" uniqKey="Dobrici V" first="Valerija" last="Dobrici">Valerija Dobrici</name>
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<author><name sortKey="Fogel, Brent L" sort="Fogel, Brent L" uniqKey="Fogel B" first="Brent" last="Fogel">Brent Fogel</name>
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<author><name sortKey="Garcia Estevez, Daniel" sort="Garcia Estevez, Daniel" uniqKey="Garcia Estevez D" first="Daniel" last="García">Daniel García</name>
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<author><name sortKey="Klepper, Joerg" sort="Klepper, Joerg" uniqKey="Klepper J" first="Joerg" last="Klepper">Joerg Klepper</name>
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<author><name sortKey="Mitchell, Philip B" sort="Mitchell, Philip B" uniqKey="Mitchell P" first="Philip" last="Mitchell">Philip Mitchell</name>
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<author><name sortKey="Mueller, Jennifer" sort="Mueller, Jennifer" uniqKey="Mueller J" first="Jennifer" last="Mueller">Jennifer Mueller</name>
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<author><name sortKey="Novakovi, Ivana" sort="Novakovi, Ivana" uniqKey="Novakovi I" first="Ivana" last="Novakovi">Ivana Novakovi</name>
</author>
<author><name sortKey="Paucar, Martin" sort="Paucar, Martin" uniqKey="Paucar M" first="Martin" last="Paucar">Martin Paucar</name>
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<author><name sortKey="Paulson, Henry" sort="Paulson, Henry" uniqKey="Paulson H" first="Henry" last="Paulson">Henry Paulson</name>
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<author><name sortKey="Simpson, Sheila A" sort="Simpson, Sheila A" uniqKey="Simpson S" first="Sheila" last="Simpson">Sheila Simpson</name>
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<author><name sortKey="Sobrido, Maria Jesus" sort="Sobrido, Maria Jesus" uniqKey="Sobrido M" first="María" last="Sobrido">María Sobrido</name>
</author>
<author><name sortKey="Geschwind, Daniel H" sort="Geschwind, Daniel H" uniqKey="Geschwind D" first="Daniel" last="Geschwind">Daniel Geschwind</name>
</author>
<author><name sortKey="Coppola, Giovanni" sort="Coppola, Giovanni" uniqKey="Coppola G" first="Giovanni" last="Coppola">Giovanni Coppola</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>SLC20A2</italic>
are a major cause of familial
idiopathic basal ganglia calcification</title>
<author><name sortKey="Hsu, Sandy Chan" sort="Hsu, Sandy Chan" uniqKey="Hsu S" first="Sandy" last="Hsu">Sandy Hsu</name>
</author>
<author><name sortKey="Sears, Renee L" sort="Sears, Renee L" uniqKey="Sears R" first="Renee" last="Sears">Renee Sears</name>
</author>
<author><name sortKey="Lemos, Roberta R" sort="Lemos, Roberta R" uniqKey="Lemos R" first="Roberta" last="Lemos">Roberta Lemos</name>
</author>
<author><name sortKey="Quintans, Beatriz" sort="Quintans, Beatriz" uniqKey="Quintans B" first="Beatriz" last="Quintáns">Beatriz Quintáns</name>
</author>
<author><name sortKey="Huang, Alden" sort="Huang, Alden" uniqKey="Huang A" first="Alden" last="Huang">Alden Huang</name>
</author>
<author><name sortKey="Spiteri, Elizabeth" sort="Spiteri, Elizabeth" uniqKey="Spiteri E" first="Elizabeth" last="Spiteri">Elizabeth Spiteri</name>
</author>
<author><name sortKey="Nevarez, Lisette" sort="Nevarez, Lisette" uniqKey="Nevarez L" first="Lisette" last="Nevarez">Lisette Nevarez</name>
</author>
<author><name sortKey="Mamah, Catherine" sort="Mamah, Catherine" uniqKey="Mamah C" first="Catherine" last="Mamah">Catherine Mamah</name>
</author>
<author><name sortKey="Zatz, Mayana" sort="Zatz, Mayana" uniqKey="Zatz M" first="Mayana" last="Zatz">Mayana Zatz</name>
</author>
<author><name sortKey="Pierce, Kerrie D" sort="Pierce, Kerrie D" uniqKey="Pierce K" first="Kerrie" last="Pierce">Kerrie Pierce</name>
</author>
<author><name sortKey="Fullerton, Janice M" sort="Fullerton, Janice M" uniqKey="Fullerton J" first="Janice" last="Fullerton">Janice Fullerton</name>
</author>
<author><name sortKey="Adair, John C" sort="Adair, John C" uniqKey="Adair J" first="John" last="Adair">John Adair</name>
</author>
<author><name sortKey="Berner, Jon E" sort="Berner, Jon E" uniqKey="Berner J" first="Jon" last="Berner">Jon Berner</name>
</author>
<author><name sortKey="Bower, Matthew" sort="Bower, Matthew" uniqKey="Bower M" first="Matthew" last="Bower">Matthew Bower</name>
</author>
<author><name sortKey="Brodaty, Henry" sort="Brodaty, Henry" uniqKey="Brodaty H" first="Henry" last="Brodaty">Henry Brodaty</name>
</author>
<author><name sortKey="Carmona, Olga" sort="Carmona, Olga" uniqKey="Carmona O" first="Olga" last="Carmona">Olga Carmona</name>
</author>
<author><name sortKey="Dobrici, Valerija" sort="Dobrici, Valerija" uniqKey="Dobrici V" first="Valerija" last="Dobrici">Valerija Dobrici</name>
</author>
<author><name sortKey="Fogel, Brent L" sort="Fogel, Brent L" uniqKey="Fogel B" first="Brent" last="Fogel">Brent Fogel</name>
</author>
<author><name sortKey="Garcia Estevez, Daniel" sort="Garcia Estevez, Daniel" uniqKey="Garcia Estevez D" first="Daniel" last="García">Daniel García</name>
</author>
<author><name sortKey="Goldman, Jill" sort="Goldman, Jill" uniqKey="Goldman J" first="Jill" last="Goldman">Jill Goldman</name>
</author>
<author><name sortKey="Goudreau, John L" sort="Goudreau, John L" uniqKey="Goudreau J" first="John" last="Goudreau">John Goudreau</name>
</author>
<author><name sortKey="Hopfer, Suellen" sort="Hopfer, Suellen" uniqKey="Hopfer S" first="Suellen" last="Hopfer">Suellen Hopfer</name>
</author>
<author><name sortKey="Jankovi, Milena" sort="Jankovi, Milena" uniqKey="Jankovi M" first="Milena" last="Jankovi">Milena Jankovi</name>
</author>
<author><name sortKey="Jauma, Serge" sort="Jauma, Serge" uniqKey="Jauma S" first="Serge" last="Jaumà">Serge Jaumà</name>
</author>
<author><name sortKey="Jen, Joanna C" sort="Jen, Joanna C" uniqKey="Jen J" first="Joanna" last="Jen">Joanna Jen</name>
</author>
<author><name sortKey="Kirdlarp, Suppachok" sort="Kirdlarp, Suppachok" uniqKey="Kirdlarp S" first="Suppachok" last="Kirdlarp">Suppachok Kirdlarp</name>
</author>
<author><name sortKey="Klepper, Joerg" sort="Klepper, Joerg" uniqKey="Klepper J" first="Joerg" last="Klepper">Joerg Klepper</name>
</author>
<author><name sortKey="Kosti, Vladimir" sort="Kosti, Vladimir" uniqKey="Kosti V" first="Vladimir" last="Kosti">Vladimir Kosti</name>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony" last="Lang">Anthony Lang</name>
</author>
<author><name sortKey="Linglart, Agnes" sort="Linglart, Agnes" uniqKey="Linglart A" first="Agnès" last="Linglart">Agnès Linglart</name>
</author>
<author><name sortKey="Maisenbacher, Melissa K" sort="Maisenbacher, Melissa K" uniqKey="Maisenbacher M" first="Melissa" last="Maisenbacher">Melissa Maisenbacher</name>
</author>
<author><name sortKey="Manyam, Bala V" sort="Manyam, Bala V" uniqKey="Manyam B" first="Bala" last="Manyam">Bala Manyam</name>
</author>
<author><name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</name>
</author>
<author><name sortKey="Miedzybrodzka, Zofia" sort="Miedzybrodzka, Zofia" uniqKey="Miedzybrodzka Z" first="Zofia" last="Miedzybrodzka">Zofia Miedzybrodzka</name>
</author>
<author><name sortKey="Mitarnun, Witoon" sort="Mitarnun, Witoon" uniqKey="Mitarnun W" first="Witoon" last="Mitarnun">Witoon Mitarnun</name>
</author>
<author><name sortKey="Mitchell, Philip B" sort="Mitchell, Philip B" uniqKey="Mitchell P" first="Philip" last="Mitchell">Philip Mitchell</name>
</author>
<author><name sortKey="Mueller, Jennifer" sort="Mueller, Jennifer" uniqKey="Mueller J" first="Jennifer" last="Mueller">Jennifer Mueller</name>
</author>
<author><name sortKey="Novakovi, Ivana" sort="Novakovi, Ivana" uniqKey="Novakovi I" first="Ivana" last="Novakovi">Ivana Novakovi</name>
</author>
<author><name sortKey="Paucar, Martin" sort="Paucar, Martin" uniqKey="Paucar M" first="Martin" last="Paucar">Martin Paucar</name>
</author>
<author><name sortKey="Paulson, Henry" sort="Paulson, Henry" uniqKey="Paulson H" first="Henry" last="Paulson">Henry Paulson</name>
</author>
<author><name sortKey="Simpson, Sheila A" sort="Simpson, Sheila A" uniqKey="Simpson S" first="Sheila" last="Simpson">Sheila Simpson</name>
</author>
<author><name sortKey="Svenningsson, Per" sort="Svenningsson, Per" uniqKey="Svenningsson P" first="Per" last="Svenningsson">Per Svenningsson</name>
</author>
<author><name sortKey="Tuite, Paul" sort="Tuite, Paul" uniqKey="Tuite P" first="Paul" last="Tuite">Paul Tuite</name>
</author>
<author><name sortKey="Vitek, Jerrold" sort="Vitek, Jerrold" uniqKey="Vitek J" first="Jerrold" last="Vitek">Jerrold Vitek</name>
</author>
<author><name sortKey="Wetchaphanphesat, Suppachok" sort="Wetchaphanphesat, Suppachok" uniqKey="Wetchaphanphesat S" first="Suppachok" last="Wetchaphanphesat">Suppachok Wetchaphanphesat</name>
</author>
<author><name sortKey="Williams, Charles" sort="Williams, Charles" uniqKey="Williams C" first="Charles" last="Williams">Charles Williams</name>
</author>
<author><name sortKey="Yang, Michele" sort="Yang, Michele" uniqKey="Yang M" first="Michele" last="Yang">Michele Yang</name>
</author>
<author><name sortKey="Schofield, Peter R" sort="Schofield, Peter R" uniqKey="Schofield P" first="Peter" last="Schofield">Peter Schofield</name>
</author>
<author><name sortKey="De Oliveira, Joao R M" sort="De Oliveira, Joao R M" uniqKey="De Oliveira J" first="João" last="De">João De</name>
</author>
<author><name sortKey="Sobrido, Maria Jesus" sort="Sobrido, Maria Jesus" uniqKey="Sobrido M" first="María" last="Sobrido">María Sobrido</name>
</author>
<author><name sortKey="Geschwind, Daniel H" sort="Geschwind, Daniel H" uniqKey="Geschwind D" first="Daniel" last="Geschwind">Daniel Geschwind</name>
</author>
<author><name sortKey="Coppola, Giovanni" sort="Coppola, Giovanni" uniqKey="Coppola G" first="Giovanni" last="Coppola">Giovanni Coppola</name>
</author>
</analytic>
<series><title level="j">Neurogenetics</title>
<idno type="ISSN">1364-6745</idno>
<idno type="e-ISSN">1364-6753</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
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</profileDesc>
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<front><div type="abstract" xml:lang="en"><p id="P1">Familial idiopathic basal ganglia calcification (IBGC) or Fahr’s
disease is a rare neurodegenerative disorder characterized by calcium deposits
in the basal ganglia and other brain regions, which is associated with
neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous
and typically transmitted in an autosomal dominant fashion. We performed a
mutational analysis of <italic>SLC20A2</italic>
, the first gene found to cause
IBGC, to assess its genetic contribution to familial IBGC. We recruited 218
subjects from 29 IBGC-affected families of varied ancestry and collected medical
history, neurological exam, and head CT scans to characterize each
patient’s disease status. We screened our patient cohort for mutations
in <italic>SLC20A2</italic>
. Twelve novel (nonsense, deletions, missense, and
splice site) potentially pathogenic variants, one synonymous variant, and one
previously reported mutation were identified in 13 families. Variants predicted
to be deleterious cosegregated with disease in five families. Three families
showed nonsegregation with clinical disease of such variants, but retrospective
review of clinical and neuroimaging data strongly suggested previous
misclassification. Overall, mutations in <italic>SLC20A2</italic>
account for as
many as 41 % of our familial IBGC cases. Our screen in a large series
expands the catalog of <italic>SLC20A2</italic>
mutations identified to date and
demonstrates that mutations in <italic>SLC20A2</italic>
are a major cause of
familial IBGC. Non-perfect segregation patterns of predicted deleterious
variants highlight the challenges of phenotypic assessment in this condition
with highly variable clinical presentation.</p>
</div>
</front>
</TEI>
</record>
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