Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome
Identifieur interne : 002773 ( Main/Exploration ); précédent : 002772; suivant : 002774Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome
Auteurs : Mario Masellis [Canada] ; Parastoo Momeni [États-Unis, Canada] ; Wendy Meschino [Canada] ; Reid Heffner [États-Unis, Canada] ; Joshua Elder [États-Unis, Canada] ; Christine Sato [Canada] ; Yan Liang [Canada] ; Peter St George-Hyslop [Canada] ; John Hardy [États-Unis, Canada] ; Juan Bilbao [Canada] ; Sandra Black [Canada] ; Ekaterina Rogaeva [Canada]Source :
- Brain [ 0006-8950 ] ; 2006-10-09.
Abstract
Corticobasal syndrome (CBS) is a rare cognitive and movement disorder characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory loss, myoclonus, focal dystonia, and dementia. It occurs along the clinical spectrum of frontotemporal lobar degeneration (FTLD), which has recently been shown to segregate with truncating mutations in progranulin (PGRN), a multifunctional growth factor thought to promote neuronal survival. This study identifies a novel splice donor site mutation in the PGRN gene (IVS7+1G→A) that segregates with CBS in a Canadian family of Chinese origin. We confirmed the absence of the mutant PGRN allele in the RT–PCR product which supports the model of haploinsufficiency for PGRN-linked disease. This report of mutation in the PGRN gene in CBS extends the evidence for genetic and phenotypic heterogeneity in FTLD spectrum disorders.
Url:
DOI: 10.1093/brain/awl276
Affiliations:
- Canada, États-Unis
- Maryland, État de New York
- Buffalo (New York)
- Université d'État de New York à Buffalo
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Black, Department of Medicine, Division of Neurology, Sunnybrook Health Sciences Centre, Room A4 21, 2075 Bayview Avenue, Toronto, ON</wicri:regionArea><wicri:noRegion>ON</wicri:noRegion></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, Division of Neurology Toronto</wicri:regionArea><wicri:noRegion>Division of Neurology Toronto</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Research in Neurodegenerative Diseases, Department of Medicine Toronto</wicri:regionArea><wicri:noRegion>Department of Medicine Toronto</wicri:noRegion></affiliation><affiliation wicri:level="1"><country>Canada</country><wicri:regionArea>Correspondence to: Dr Sandra E. Black, Department of Medicine, Division of Neurology, Sunnybrook Health Sciences Centre, Room A4 21, 2075 Bayview Avenue, Toronto, ON</wicri:regionArea><wicri:noRegion>ON</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2006-10-09">2006-10-09</date><biblScope unit="volume">129</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="3115">3115</biblScope><biblScope unit="page" to="3123">3123</biblScope></imprint><idno type="ISSN">0006-8950</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0006-8950</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Corticobasal syndrome (CBS) is a rare cognitive and movement disorder characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory loss, myoclonus, focal dystonia, and dementia. It occurs along the clinical spectrum of frontotemporal lobar degeneration (FTLD), which has recently been shown to segregate with truncating mutations in progranulin (PGRN), a multifunctional growth factor thought to promote neuronal survival. This study identifies a novel splice donor site mutation in the PGRN gene (IVS7+1G→A) that segregates with CBS in a Canadian family of Chinese origin. We confirmed the absence of the mutant PGRN allele in the RT–PCR product which supports the model of haploinsufficiency for PGRN-linked disease. This report of mutation in the PGRN gene in CBS extends the evidence for genetic and phenotypic heterogeneity in FTLD spectrum disorders.</div></front></TEI><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Maryland</li><li>État de New York</li></region><settlement><li>Buffalo (New York)</li></settlement><orgName><li>Université d'État de New York à Buffalo</li></orgName></list><tree><country name="Canada"><noRegion><name sortKey="Masellis, Mario" sort="Masellis, Mario" uniqKey="Masellis M" first="Mario" last="Masellis">Mario Masellis</name></noRegion><name sortKey="Bilbao, Juan" sort="Bilbao, Juan" uniqKey="Bilbao J" first="Juan" last="Bilbao">Juan Bilbao</name><name sortKey="Bilbao, Juan" sort="Bilbao, Juan" uniqKey="Bilbao J" first="Juan" last="Bilbao">Juan Bilbao</name><name sortKey="Black, Sandra" sort="Black, Sandra" uniqKey="Black S" first="Sandra" last="Black">Sandra Black</name><name sortKey="Black, Sandra" sort="Black, Sandra" uniqKey="Black S" first="Sandra" last="Black">Sandra Black</name><name sortKey="Black, Sandra" sort="Black, Sandra" uniqKey="Black S" first="Sandra" last="Black">Sandra Black</name><name sortKey="Elder, Joshua" sort="Elder, Joshua" uniqKey="Elder J" first="Joshua" last="Elder">Joshua Elder</name><name sortKey="George Hyslop, Peter St" sort="George Hyslop, Peter St" uniqKey="George Hyslop P" first="Peter St" last="George-Hyslop">Peter St George-Hyslop</name><name sortKey="George Hyslop, Peter St" sort="George Hyslop, Peter St" uniqKey="George Hyslop P" first="Peter St" last="George-Hyslop">Peter St George-Hyslop</name><name sortKey="George Hyslop, Peter St" sort="George Hyslop, Peter St" uniqKey="George Hyslop P" first="Peter St" last="George-Hyslop">Peter St George-Hyslop</name><name sortKey="George Hyslop, Peter St" sort="George Hyslop, Peter St" uniqKey="George Hyslop P" first="Peter St" last="George-Hyslop">Peter St George-Hyslop</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Heffner, Reid" sort="Heffner, Reid" uniqKey="Heffner R" first="Reid" last="Heffner">Reid Heffner</name><name sortKey="Liang, Yan" sort="Liang, Yan" uniqKey="Liang Y" first="Yan" last="Liang">Yan Liang</name><name sortKey="Liang, Yan" sort="Liang, Yan" uniqKey="Liang Y" first="Yan" last="Liang">Yan Liang</name><name sortKey="Masellis, Mario" sort="Masellis, Mario" uniqKey="Masellis M" first="Mario" last="Masellis">Mario Masellis</name><name sortKey="Masellis, Mario" sort="Masellis, Mario" uniqKey="Masellis M" first="Mario" last="Masellis">Mario Masellis</name><name sortKey="Meschino, Wendy" sort="Meschino, Wendy" uniqKey="Meschino W" first="Wendy" last="Meschino">Wendy Meschino</name><name sortKey="Meschino, Wendy" sort="Meschino, Wendy" uniqKey="Meschino W" first="Wendy" last="Meschino">Wendy Meschino</name><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name></region><name sortKey="Elder, Joshua" sort="Elder, Joshua" uniqKey="Elder J" first="Joshua" last="Elder">Joshua Elder</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Heffner, Reid" sort="Heffner, Reid" uniqKey="Heffner R" first="Reid" last="Heffner">Reid Heffner</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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