Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases.
Identifieur interne : 002138 ( Ncbi/Curation ); précédent : 002137; suivant : 002139Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases.
Auteurs : Rita Joao Guerreiro [États-Unis] ; Isabel Santana ; Jose Miguel Bras ; Tamas Revesz ; Olinda Rebelo ; Maria Helena Ribeiro ; Beatriz Santiago ; Catarina Resende Oliveira ; Andrew Singleton ; John HardySource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
Descripteurs français
- Wicri :
- geographic : Portugal.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Intercellular Signaling Peptides and Proteins.
- chemical , metabolism : DNA-Binding Proteins.
- geographic , epidemiology : Portugal.
- genetics : Dementia, Mutation.
- metabolism : Dementia.
- DNA Mutational Analysis, Family Health, Female, Humans, Male, Middle Aged.
Abstract
Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD) in many families. Different frequencies of these genetic changes have been reported in diverse populations leading us to determine if these mutations were a major cause of FTD in the Portuguese population. The entire coding sequence plus exon 0 of PGRN were sequenced in a consecutive series of 46 FTD/CBS Portuguese patients. Two mutations were found: a novel pathogenic insertion (p.Gln300GlnfsX61) and a previously described point variant (p.T182M) of unclear pathogenicity. Pathogenic mutations in the PGRN gene were found in one of the 36 probands studied (3% of the probands in our series) who had a corticobasal syndrome presentation, indicating that in the Portuguese population, mutations in this gene are not a major cause of FTD.
DOI: 10.1002/mds.22078
PubMed: 18464284
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Jose Miguel" uniqKey="Bras J" first="Jose Miguel" last="Bras">Jose Miguel Bras</name></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name></author><author><name sortKey="Rebelo, Olinda" sort="Rebelo, Olinda" uniqKey="Rebelo O" first="Olinda" last="Rebelo">Olinda Rebelo</name></author><author><name sortKey="Ribeiro, Maria Helena" sort="Ribeiro, Maria Helena" uniqKey="Ribeiro M" first="Maria Helena" last="Ribeiro">Maria Helena Ribeiro</name></author><author><name sortKey="Santiago, Beatriz" sort="Santiago, Beatriz" uniqKey="Santiago B" first="Beatriz" last="Santiago">Beatriz Santiago</name></author><author><name sortKey="Oliveira, Catarina Resende" sort="Oliveira, Catarina Resende" uniqKey="Oliveira C" first="Catarina Resende" last="Oliveira">Catarina Resende Oliveira</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew 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wicri:level="1"><nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Center, Bethesda, Maryland 20852, USA. portalegrer@nia.nih.gov</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Center, Bethesda, Maryland 20852</wicri:regionArea><wicri:noRegion>Maryland 20852</wicri:noRegion></affiliation></author><author><name sortKey="Santana, Isabel" sort="Santana, Isabel" uniqKey="Santana I" first="Isabel" last="Santana">Isabel Santana</name></author><author><name sortKey="Bras, Jose Miguel" sort="Bras, Jose Miguel" uniqKey="Bras J" first="Jose Miguel" last="Bras">Jose Miguel Bras</name></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name></author><author><name sortKey="Rebelo, Olinda" sort="Rebelo, Olinda" uniqKey="Rebelo O" first="Olinda" last="Rebelo">Olinda Rebelo</name></author><author><name sortKey="Ribeiro, Maria Helena" sort="Ribeiro, Maria Helena" uniqKey="Ribeiro M" first="Maria Helena" last="Ribeiro">Maria Helena Ribeiro</name></author><author><name sortKey="Santiago, Beatriz" sort="Santiago, Beatriz" uniqKey="Santiago B" first="Beatriz" last="Santiago">Beatriz Santiago</name></author><author><name sortKey="Oliveira, Catarina Resende" sort="Oliveira, Catarina Resende" uniqKey="Oliveira C" first="Catarina Resende" last="Oliveira">Catarina Resende Oliveira</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA Mutational Analysis</term><term>DNA-Binding Proteins (metabolism)</term><term>Dementia (genetics)</term><term>Dementia (metabolism)</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Intercellular Signaling Peptides and Proteins (genetics)</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Portugal (epidemiology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Intercellular Signaling Peptides and Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>DNA-Binding Proteins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Portugal</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dementia</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Dementia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Portugal</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD) in many families. Different frequencies of these genetic changes have been reported in diverse populations leading us to determine if these mutations were a major cause of FTD in the Portuguese population. The entire coding sequence plus exon 0 of PGRN were sequenced in a consecutive series of 46 FTD/CBS Portuguese patients. Two mutations were found: a novel pathogenic insertion (p.Gln300GlnfsX61) and a previously described point variant (p.T182M) of unclear pathogenicity. Pathogenic mutations in the PGRN gene were found in one of the 36 probands studied (3% of the probands in our series) who had a corticobasal syndrome presentation, indicating that in the Portuguese population, mutations in this gene are not a major cause of FTD.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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