Mutation screening of the DYT6/THAP1 gene in Italy.
Identifieur interne : 002900 ( Ncbi/Curation ); précédent : 002899; suivant : 002901Mutation screening of the DYT6/THAP1 gene in Italy.
Auteurs : Monica Bonetti [Italie] ; Chiara Barzaghi ; Francesco Brancati ; Alessandro Ferraris ; Emanuele Bellacchio ; Alessandro Giovanetti ; Tamara Ialongo ; Giovanna Zorzi ; Carla Piano ; Martina Petracca ; Alberto Albanese ; Nardo Nardocci ; Bruno Dallapiccola ; Anna Rita Bentivoglio ; Barbara Garavaglia ; Enza Maria ValenteSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
Descripteurs français
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Apoptosis Regulatory Proteins (genetics), Child, Child, Preschool, Cohort Studies, DNA-Binding Proteins (genetics), Dystonia Musculorum Deformans (genetics), Female, Genetic Testing (methods), Humans, Infant, Italy (epidemiology), Male, Middle Aged, Mutation (genetics), Nuclear Proteins (genetics), Young Adult.
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- geographic , epidemiology : Italy.
- genetics : Dystonia Musculorum Deformans, Mutation.
- methods : Genetic Testing.
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, Child, Preschool, Cohort Studies, Female, Humans, Infant, Male, Middle Aged, Young Adult.
Abstract
Mutations in the THAP1 gene on chromosome 8p21-p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish-Mennonite families and in 12 additional probands of different ancestry. We sequenced the THAP1 gene in 158 patients with DYT1-negative PTD who had onset of symptoms below 30 years and/or positive family history. One sporadic Greek male patient, aged 57 years, was found to carry a novel heterozygous missense variant in THAP1 exon 3 (p.Cys170Arg), of likely pathogenic significance. This subject first presented with right writer's cramp at age of 10 years and, subsequently, developed left arm dystonia and an extremely severe left laterocollis, without further spreading to other body districts. Our findings expand the genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical districts that are usually spared in DYT1-PTD.
DOI: 10.1002/mds.22861
PubMed: 19908325
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Valente</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22861</idno><idno type="RBID">pubmed:19908325</idno><idno type="pmid">19908325</idno><idno type="wicri:Area/PubMed/Corpus">001A83</idno><idno type="wicri:Area/PubMed/Curation">001A83</idno><idno type="wicri:Area/PubMed/Checkpoint">001D04</idno><idno type="wicri:Area/Ncbi/Merge">002900</idno><idno type="wicri:Area/Ncbi/Curation">002900</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mutation screening of the DYT6/THAP1 gene in Italy.</title><author><name sortKey="Bonetti, Monica" sort="Bonetti, Monica" uniqKey="Bonetti M" first="Monica" last="Bonetti">Monica Bonetti</name><affiliation wicri:level="3"><nlm:affiliation>IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Institute, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Barzaghi, Chiara" sort="Barzaghi, Chiara" uniqKey="Barzaghi C" first="Chiara" last="Barzaghi">Chiara Barzaghi</name></author><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name></author><author><name sortKey="Bellacchio, Emanuele" sort="Bellacchio, Emanuele" uniqKey="Bellacchio E" first="Emanuele" last="Bellacchio">Emanuele Bellacchio</name></author><author><name sortKey="Giovanetti, Alessandro" sort="Giovanetti, Alessandro" uniqKey="Giovanetti A" first="Alessandro" last="Giovanetti">Alessandro Giovanetti</name></author><author><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name></author><author><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name></author><author><name sortKey="Piano, Carla" sort="Piano, Carla" uniqKey="Piano C" first="Carla" last="Piano">Carla Piano</name></author><author><name sortKey="Petracca, Martina" sort="Petracca, Martina" uniqKey="Petracca M" first="Martina" last="Petracca">Martina Petracca</name></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></author><author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</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="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Apoptosis Regulatory Proteins (genetics)</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>DNA-Binding Proteins (genetics)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Female</term><term>Genetic Testing (methods)</term><term>Humans</term><term>Infant</term><term>Italy (epidemiology)</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nuclear Proteins (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term><term>DNA-Binding Proteins</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the THAP1 gene on chromosome 8p21-p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish-Mennonite families and in 12 additional probands of different ancestry. We sequenced the THAP1 gene in 158 patients with DYT1-negative PTD who had onset of symptoms below 30 years and/or positive family history. One sporadic Greek male patient, aged 57 years, was found to carry a novel heterozygous missense variant in THAP1 exon 3 (p.Cys170Arg), of likely pathogenic significance. This subject first presented with right writer's cramp at age of 10 years and, subsequently, developed left arm dystonia and an extremely severe left laterocollis, without further spreading to other body districts. Our findings expand the genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical districts that are usually spared in DYT1-PTD.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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