An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family
Identifieur interne : 001812 ( Main/Exploration ); précédent : 001811; suivant : 001813An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family
Auteurs : Helen Ling [Royaume-Uni] ; James M. Polke [Royaume-Uni] ; Mary G. Sweeney [Royaume-Uni] ; Andrea Haworth [Royaume-Uni] ; Catherine A. Sandford [Royaume-Uni] ; Simon J. R. Heales [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Mary B. Davis [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-04.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Antiparkinson Agents (adverse effects), Duplication, Dystonia (chemically induced), Dystonia (genetics), Family Health, Female, GCH1 duplication, GTP Cyclohydrolase (genetics), Genes, Duplicate (genetics), Genetic Testing (methods), Guanosine, Humans, Levodopa (adverse effects), Male, Migraine, Mutation, Nervous system diseases, Pain, Restless legs syndrome, Segawa disease, Young Adult, dopa‐responsive dystonia, migraine, novel mutation, restless leg syndrome.
- MESH :
- chemical , adverse effects : Antiparkinson Agents, Levodopa.
- chemically induced : Dystonia.
- genetics : Dystonia, GTP Cyclohydrolase, Genes, Duplicate.
- methods : Genetic Testing.
- Adult, Family Health, Female, Humans, Male, Young Adult.
Abstract
Background:: Autosomal dominant dopa‐responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase‐1 gene. Methods:: We report a British family that has been followed for more than 20 years in which no mutations were previously identified. Results:: Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase‐1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa‐responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine. Conclusions:: This is the first report of an intragenic guanosine triphosphate cyclohydrolase‐1 duplication in a dopa‐responsive dystonia family. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23593
Affiliations:
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Polke</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Haworth, Andrea" sort="Haworth, Andrea" uniqKey="Haworth A" first="Andrea" last="Haworth">Andrea Haworth</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Sandford, Catherine A" sort="Sandford, Catherine A" uniqKey="Sandford C" first="Catherine A." last="Sandford">Catherine A. Sandford</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Heales, Simon J R" sort="Heales, Simon J R" uniqKey="Heales S" first="Simon J. R." last="Heales">Simon J. R. Heales</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Enzyme and Metabolic Unit, Great Ormond Street Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-04">2011-04</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="905">905</biblScope><biblScope unit="page" to="909">909</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">32D6DD4F8CBFDE002C8DDF21549E22D9E7BC4BAC</idno><idno type="DOI">10.1002/mds.23593</idno><idno type="ArticleID">MDS23593</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Antiparkinson Agents (adverse effects)</term><term>Duplication</term><term>Dystonia (chemically induced)</term><term>Dystonia (genetics)</term><term>Family Health</term><term>Female</term><term>GCH1 duplication</term><term>GTP Cyclohydrolase (genetics)</term><term>Genes, Duplicate (genetics)</term><term>Genetic Testing (methods)</term><term>Guanosine</term><term>Humans</term><term>Levodopa (adverse effects)</term><term>Male</term><term>Migraine</term><term>Mutation</term><term>Nervous system diseases</term><term>Pain</term><term>Restless legs syndrome</term><term>Segawa disease</term><term>Young Adult</term><term>dopa‐responsive dystonia</term><term>migraine</term><term>novel mutation</term><term>restless leg syndrome</term></keywords><keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="chemically induced" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>GTP Cyclohydrolase</term><term>Genes, Duplicate</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Douleur</term><term>Duplication</term><term>Guanosine</term><term>Maladie de Segawa</term><term>Migraine</term><term>Mutation</term><term>Pathologie du système nerveux</term><term>Syndrome des jambes sans repos</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background:: Autosomal dominant dopa‐responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase‐1 gene. Methods:: We report a British family that has been followed for more than 20 years in which no mutations were previously identified. Results:: Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase‐1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa‐responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine. Conclusions:: This is the first report of an intragenic guanosine triphosphate cyclohydrolase‐1 duplication in a dopa‐responsive dystonia family. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>National Hospital for Neurology and Neurosurgery</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Ling, Helen" sort="Ling, Helen" uniqKey="Ling H" first="Helen" last="Ling">Helen Ling</name></region><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name><name sortKey="Haworth, Andrea" sort="Haworth, Andrea" uniqKey="Haworth A" first="Andrea" last="Haworth">Andrea Haworth</name><name sortKey="Heales, Simon J R" sort="Heales, Simon J R" uniqKey="Heales S" first="Simon J. R." last="Heales">Simon J. R. Heales</name><name sortKey="Heales, Simon J R" sort="Heales, Simon J R" uniqKey="Heales S" first="Simon J. R." last="Heales">Simon J. R. Heales</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><name sortKey="Ling, Helen" sort="Ling, Helen" uniqKey="Ling H" first="Helen" last="Ling">Helen Ling</name><name sortKey="Polke, James M" sort="Polke, James M" uniqKey="Polke J" first="James M." last="Polke">James M. Polke</name><name sortKey="Sandford, Catherine A" sort="Sandford, Catherine A" uniqKey="Sandford C" first="Catherine A." last="Sandford">Catherine A. Sandford</name><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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