AustralieFrV1, Main, Exploration, bibRecord, 009D62

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

Identifieur interne : 009D62 ( Main/Exploration ); précédent : 009D61; suivant : 009D63

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

Auteurs : Mark I. Rees [Royaume-Uni, Nouvelle-Zélande] ; Kirsten Harvey [Royaume-Uni] ; Brian R. Pearce [Royaume-Uni] ; Seo-Kyung Chung [Royaume-Uni, Nouvelle-Zélande] ; Ian C. Duguid [Royaume-Uni] ; Philip Thomas [Royaume-Uni] ; Sarah Beatty [Nouvelle-Zélande] ; Gail E. Graham [Canada] ; Linlea Armstrong [Canada] ; Rita Shiang [États-Unis] ; Kim J. Abbott [Australie] ; Sameer M. Zuberi [Royaume-Uni] ; John B. P. Stephenson [Royaume-Uni] ; Michael J. Owen [Royaume-Uni] ; Marina A. J. Tijssen [Pays-Bas] ; Arn M. J. M. Van Den Maagdenberg [Pays-Bas] ; Trevor G. Smart [Royaume-Uni] ; Stéphane Supplisson [France] ; Robert J. Harvey [Royaume-Uni]

Source :

Nature genetics [ 1061-4036 ] ; 2006.

RBID : Pascal:06-0358329

Descripteurs français

Pascal (Inist)
- Mutation, Gène, Homme.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Gene, Human, Mutation.

Abstract

Hyperekplexia is a human neurological disorder characterized by an excessive startle response and is typically caused by missense and nonsense mutations in the gene encoding the inhibitory glycine receptor (GlyR) α1 subunit (GLRA1)^1-3. Genetic heterogeneity has been confirmed in rare sporadic cases, with mutations affecting other postsynaptic glycinergic proteins including the GlyR β subunit (GLRB)⁴, gephyrin (GPHAN)⁵ and RhoCEF collybistin (ARHGEF9)⁶. However, many individuals diagnosed with sporadic hyperekplexia do not carry mutations in these genes^2-7. Here we show that missense, nonsense and frameshift mutations in SLC6A5 (ref. 8), encoding the presynaptic glycine transporter 2 (GlyT2), also cause hyperekplexia. Individuals with mutations in SLC6A5 present with hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. SLC6A5 mutations result in defective subcellular GlyT2 localization, decreased glycine uptake or both, with selected mutations affecting predicted glycine and Na⁺ binding sites.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3204411

Affiliations:

Le document en format XML

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<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road</s1>
<s2>Ontario K1H 8L1</s2>
<s3>CAN</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Ontario K1H 8L1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Armstrong, Linlea" sort="Armstrong, Linlea" uniqKey="Armstrong L" first="Linlea" last="Armstrong">Linlea Armstrong</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, 4500 Oak Street</s1>
<s2>Vancouver, British Columbia V6H 3N1</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Vancouver, British Columbia V6H 3N1</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Shiang, Rita" sort="Shiang, Rita" uniqKey="Shiang R" first="Rita" last="Shiang">Rita Shiang</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Human Genetics, Virginia Commonwealth University Medical Center, P.O. Box 980033</s1>
<s2>Richmond, Virginia 23298-0033</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Richmond, Virginia 23298-0033</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Abbott, Kim J" sort="Abbott, Kim J" uniqKey="Abbott K" first="Kim J." last="Abbott">Kim J. Abbott</name>
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<s2>Adelaide, South Australia</s2>
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<country>Australie</country>
<wicri:noRegion>Adelaide, South Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zuberi, Sameer M" sort="Zuberi, Sameer M" uniqKey="Zuberi S" first="Sameer M." last="Zuberi">Sameer M. Zuberi</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children</s1>
<s2>Glasgow, G3 8SJ</s2>
<s3>GBR</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
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<country>Royaume-Uni</country>
<wicri:noRegion>Glasgow, G3 8SJ</wicri:noRegion>
</affiliation>
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<author><name sortKey="Stephenson, John B P" sort="Stephenson, John B P" uniqKey="Stephenson J" first="John B. P." last="Stephenson">John B. P. Stephenson</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children</s1>
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<s3>GBR</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
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<country>Royaume-Uni</country>
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</affiliation>
</author>
<author><name sortKey="Owen, Michael J" sort="Owen, Michael J" uniqKey="Owen M" first="Michael J." last="Owen">Michael J. Owen</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Psychological Medicine, University of Wales College of Medicine</s1>
<s2>Cardiff CF14 4XN</s2>
<s3>GBR</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Cardiff CF14 4XN</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name>
<affiliation wicri:level="4"><inist:fA14 i1="11"><s1>Department of Neurology, Academic Medical Centre, University of Amsterdam, PO BOX 22660</s1>
<s2>1100 DD Amsterdam</s2>
<s3>NLD</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>1100 DD Amsterdam</wicri:noRegion>
<orgName type="university">Université d'Amsterdam</orgName>
<placeName><settlement type="city">Amsterdam</settlement>
<region>Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Den Maagdenberg, Arn M J M" sort="Van Den Maagdenberg, Arn M J M" uniqKey="Van Den Maagdenberg A" first="Arn M. J. M." last="Van Den Maagdenberg">Arn M. J. M. Van Den Maagdenberg</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Neurology and Department of Human Genetics, Leiden University Medical Centre, PO Box 9600</s1>
<s2>2300 RC Leiden</s2>
<s3>NLD</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>2300 RC Leiden</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Smart, Trevor G" sort="Smart, Trevor G" uniqKey="Smart T" first="Trevor G." last="Smart">Trevor G. Smart</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Pharmacology, University College London, Gower Street</s1>
<s2>London WC1E 6BT</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London WC1E 6BT</wicri:noRegion>
<orgName type="university">University College de Londres</orgName>
<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="Supplisson, Stephane" sort="Supplisson, Stephane" uniqKey="Supplisson S" first="Stéphane" last="Supplisson">Stéphane Supplisson</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Laboratoire de Neurobiologie, CNRS UMR8544, Ecole Normale Superieure, 46 Rue d'Ulm</s1>
<s2>75005 Paris</s2>
<s3>FRA</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75005 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Harvey, Robert J" sort="Harvey, Robert J" uniqKey="Harvey R" first="Robert J." last="Harvey">Robert J. Harvey</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pharmacology, The School of Pharmacy, 29-39 Brunswick Square</s1>
<s2>London WC1N 1AX</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London WC1N 1AX</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
<imprint><date when="2006">2006</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gene</term>
<term>Human</term>
<term>Mutation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term>
<term>Gène</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Hyperekplexia is a human neurological disorder characterized by an excessive startle response and is typically caused by missense and nonsense mutations in the gene encoding the inhibitory glycine receptor (GlyR) α1 subunit (GLRA1)<sup>1-3</sup>
. Genetic heterogeneity has been confirmed in rare sporadic cases, with mutations affecting other postsynaptic glycinergic proteins including the GlyR β subunit (GLRB)<sup>4</sup>
, gephyrin (GPHAN)<sup>5</sup>
 and RhoCEF collybistin (ARHGEF9)<sup>6</sup>
. However, many individuals diagnosed with sporadic hyperekplexia do not carry mutations in these genes<sup>2-7</sup>
. Here we show that missense, nonsense and frameshift mutations in SLC6A5 (ref. 8), encoding the presynaptic glycine transporter 2 (GlyT2), also cause hyperekplexia. Individuals with mutations in SLC6A5 present with hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. SLC6A5 mutations result in defective subcellular GlyT2 localization, decreased glycine uptake or both, with selected mutations affecting predicted glycine and Na<sup>+</sup>
 binding sites.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Canada</li>
<li>France</li>
<li>Nouvelle-Zélande</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
<li>Hollande-Septentrionale</li>
<li>Île-de-France</li>
</region>
<settlement><li>Amsterdam</li>
<li>Londres</li>
<li>Paris</li>
</settlement>
<orgName><li>University College de Londres</li>
<li>Université d'Amsterdam</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><noRegion><name sortKey="Rees, Mark I" sort="Rees, Mark I" uniqKey="Rees M" first="Mark I." last="Rees">Mark I. Rees</name>
</noRegion>
<name sortKey="Chung, Seo Kyung" sort="Chung, Seo Kyung" uniqKey="Chung S" first="Seo-Kyung" last="Chung">Seo-Kyung Chung</name>
<name sortKey="Duguid, Ian C" sort="Duguid, Ian C" uniqKey="Duguid I" first="Ian C." last="Duguid">Ian C. Duguid</name>
<name sortKey="Harvey, Kirsten" sort="Harvey, Kirsten" uniqKey="Harvey K" first="Kirsten" last="Harvey">Kirsten Harvey</name>
<name sortKey="Harvey, Robert J" sort="Harvey, Robert J" uniqKey="Harvey R" first="Robert J." last="Harvey">Robert J. Harvey</name>
<name sortKey="Owen, Michael J" sort="Owen, Michael J" uniqKey="Owen M" first="Michael J." last="Owen">Michael J. Owen</name>
<name sortKey="Pearce, Brian R" sort="Pearce, Brian R" uniqKey="Pearce B" first="Brian R." last="Pearce">Brian R. Pearce</name>
<name sortKey="Smart, Trevor G" sort="Smart, Trevor G" uniqKey="Smart T" first="Trevor G." last="Smart">Trevor G. Smart</name>
<name sortKey="Stephenson, John B P" sort="Stephenson, John B P" uniqKey="Stephenson J" first="John B. P." last="Stephenson">John B. P. Stephenson</name>
<name sortKey="Thomas, Philip" sort="Thomas, Philip" uniqKey="Thomas P" first="Philip" last="Thomas">Philip Thomas</name>
<name sortKey="Zuberi, Sameer M" sort="Zuberi, Sameer M" uniqKey="Zuberi S" first="Sameer M." last="Zuberi">Sameer M. Zuberi</name>
</country>
<country name="Nouvelle-Zélande"><noRegion><name sortKey="Rees, Mark I" sort="Rees, Mark I" uniqKey="Rees M" first="Mark I." last="Rees">Mark I. Rees</name>
</noRegion>
<name sortKey="Beatty, Sarah" sort="Beatty, Sarah" uniqKey="Beatty S" first="Sarah" last="Beatty">Sarah Beatty</name>
<name sortKey="Chung, Seo Kyung" sort="Chung, Seo Kyung" uniqKey="Chung S" first="Seo-Kyung" last="Chung">Seo-Kyung Chung</name>
</country>
<country name="Canada"><noRegion><name sortKey="Graham, Gail E" sort="Graham, Gail E" uniqKey="Graham G" first="Gail E." last="Graham">Gail E. Graham</name>
</noRegion>
<name sortKey="Armstrong, Linlea" sort="Armstrong, Linlea" uniqKey="Armstrong L" first="Linlea" last="Armstrong">Linlea Armstrong</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Shiang, Rita" sort="Shiang, Rita" uniqKey="Shiang R" first="Rita" last="Shiang">Rita Shiang</name>
</noRegion>
</country>
<country name="Australie"><noRegion><name sortKey="Abbott, Kim J" sort="Abbott, Kim J" uniqKey="Abbott K" first="Kim J." last="Abbott">Kim J. Abbott</name>
</noRegion>
</country>
<country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name>
</region>
<name sortKey="Van Den Maagdenberg, Arn M J M" sort="Van Den Maagdenberg, Arn M J M" uniqKey="Van Den Maagdenberg A" first="Arn M. J. M." last="Van Den Maagdenberg">Arn M. J. M. Van Den Maagdenberg</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Supplisson, Stephane" sort="Supplisson, Stephane" uniqKey="Supplisson S" first="Stéphane" last="Supplisson">Stéphane Supplisson</name>
</region>
</country>
</tree>
</affiliations>
</record>

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Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

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