A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
Identifieur interne : 000305 ( PubMed/Curation ); précédent : 000304; suivant : 000306A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
Auteurs : Janel O. Johnson [Royaume-Uni] ; Giovanni Stevanin ; Joyce Van De Leemput ; Dena G. Hernandez ; Sampath Arepalli ; Sylvie Forlani ; Reza Zonozi ; J Raphael Gibbs ; Alexis Brice ; Alexandra Durr ; Andrew B. SingletonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Descripteurs français
- Wicri :
- geographic : France.
English descriptors
- KwdEn :
- Chromosome Mapping, Chromosomes, Human, Pair 11, France, Genetic Linkage, Genetic Predisposition to Disease, Genotype, Humans, Intellectual Disability (genetics), Male, Middle Aged, Muscle Spasticity (genetics), Optic Atrophy (genetics), Pedigree, Phenotype, Polymorphism, Single Nucleotide (genetics), Spinocerebellar Ataxias (genetics), Trisomy.
- MESH :
- geographic : France.
- genetics : Intellectual Disability, Muscle Spasticity, Optic Atrophy, Polymorphism, Single Nucleotide, Spinocerebellar Ataxias.
- Chromosome Mapping, Chromosomes, Human, Pair 11, Genetic Linkage, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Pedigree, Phenotype, Trisomy.
Abstract
The autosomal dominant spinocerebellar ataxias are most commonly caused by nucleotide repeat expansions followed by base-pair changes in functionally important genes. Structural variation has recently been shown to underlie spinocerebellar ataxia types 15 and 20.
DOI: 10.1002/mds.26059
PubMed: 25545641
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pubmed:25545641Le document en format XML
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<author><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J Raphael" last="Gibbs">J Raphael Gibbs</name>
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<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>France</term>
<term>Genetic Linkage</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Intellectual Disability (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Muscle Spasticity (genetics)</term>
<term>Optic Atrophy (genetics)</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Trisomy</term>
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<keywords scheme="MESH" type="geographic" xml:lang="en"><term>France</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Intellectual Disability</term>
<term>Muscle Spasticity</term>
<term>Optic Atrophy</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Chromosome Mapping</term>
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<term>Genetic Linkage</term>
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<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Trisomy</term>
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<front><div type="abstract" xml:lang="en">The autosomal dominant spinocerebellar ataxias are most commonly caused by nucleotide repeat expansions followed by base-pair changes in functionally important genes. Structural variation has recently been shown to underlie spinocerebellar ataxia types 15 and 20.</div>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.</ArticleTitle>
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<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">The autosomal dominant spinocerebellar ataxias are most commonly caused by nucleotide repeat expansions followed by base-pair changes in functionally important genes. Structural variation has recently been shown to underlie spinocerebellar ataxia types 15 and 20.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">We applied single-nucleotide polymorphism (SNP) genotyping to determine whether structural variation causes spinocerebellar ataxia in a family from France.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">We identified an approximately 7.5-megabasepair duplication on chromosome 11q21-11q22.3 that segregates with disease. This duplication contains an estimated 44 genes. Duplications at this locus were not found in control individuals.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">We have identified a new spastic ataxia syndrome caused by a genomic duplication, which we have denoted as spinocerebellar ataxia type 39. Finding additional families with this phenotype will be important to identify the genetic lesion underlying disease.</AbstractText>
<CopyrightInformation>© 2014 International Parkinson and Movement Disorder Society.</CopyrightInformation>
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<Initials>JO</Initials>
<AffiliationInfo><Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, Queen Square, London, UK.</Affiliation>
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