AustralieFrV1, Main, Exploration, bibRecord, 007699

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Identifieur interne : 007699 ( Main/Exploration ); précédent : 007698; suivant : 007700

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Auteurs : Maila Giannandrea [Italie] ; Veronica Blanche [Italie] ; Maria Lidia Mignogna [Italie] ; Alessandra Sirri [Italie] ; Salvatore Carrabino [Italie] ; Errico D'Elia [Italie] ; Matteo Vecellio [Italie] ; Silvia Russo [Italie] ; Francesca Cogliati [Italie] ; Lidia Larizza [Italie] ; Hans-Hilger Ropers [Allemagne] ; Andreas Tzschach [Allemagne] ; Vera Kalscheuer [Allemagne] ; Barbara Oehl-Jaschkowitz [Allemagne] ; Cindy Skinner [États-Unis] ; Charles E. Schwartz [États-Unis] ; Jozef Gecz [Australie] ; Hilde Van Esch [Belgique] ; Martine Raynaud [France] ; Jamel Chelly [France] ; Arjan P. M. De Brouwer [Pays-Bas] ; Daniela Toniolo [Italie] ; Patrizia D'Adamo [Italie]

Source :

American journal of human genetics [ 0002-9297 ] ; 2010.

RBID : Pascal:10-0133696

Descripteurs français

Pascal (Inist)
- Arriération mentale, Autisme, Epilepsie, Mutation, dGTPase, Génétique, Gène, Maladie héréditaire, Chromosome X, Caractère lié au sexe, Trouble neurologique, Macrocéphalie, Homme.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Autism, Epilepsy, Gene, Genetic disease, Genetics, Human, Macrocephaly, Mental retardation, Mutation, Neurological disorder, Sex linked character, X-Chromosome, dGTPase.

Abstract

Human Mental Retardation (MR) is a common and highly heterogeneous pediatric disorder affecting around 3% of the general population; at least 215 X-linked MR (XLMR) conditions have been described, and mutations have been identified in 83 different genes, encoding proteins with a variety of function, such as chromatin remodeling, synaptic function, and intracellular trafficking. The small GTPases of the RAB family, which play an essential role in intracellular vesicular trafficking, have been shown to be involved in MR. We report here the identification of mutations in the small GTPase RAB39B gene in two male patients. One mutation in family X (D-23) introduced a stop codon seven amino acids after the start codon (c.21C > A; p.Y7X). A second mutation, in the MRX72 family, altered the 5' splice site (c.215+1G > A) and normal splicing. Neither instance produced a protein. Mutations segregate with the disease in the families, and in some family members intellectual disabilities were associated with autism spectrum disorder, epileptic seizures, and macrocephaly. We show that RAB39B, a novel RAB GTPase of unknown function, is a neuronal-specific protein that is localized to the Golgi compartment. Its downregulation leads to an alteration in the number and morphology of neurite growth cones and a significant reduction in presynaptic buttons, suggesting that RAB39B is required for synapse formation and maintenance. Our results demonstrate developmental and functional neuronal alteration as a consequence of downregulation of RAB39B and emphasize the critical role of vesicular trafficking in the development of neurons and human intellectual abilities.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820185

Affiliations:

Allemagne, Australie, Belgique, France, Italie, Pays-Bas, États-Unis
Berlin, Gueldre, Lombardie, Province du Brabant flamand, Île-de-France
Berlin, Louvain, Milan, Nimègue, Paris

Le document en format XML

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<country>Italie</country>
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<country>Italie</country>
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<s2>20132 Milan</s2>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Molecular Genetics Laboratory, Istituto Auxologico Italiano</s1>
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<country>Italie</country>
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<country>Italie</country>
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</affiliation>
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<author><name sortKey="Larizza, Lidia" sort="Larizza, Lidia" uniqKey="Larizza L" first="Lidia" last="Larizza">Lidia Larizza</name>
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<country>Italie</country>
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</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Chirurgia e Odontoiatria Università di Milano Polo Osp. San Paolo</s1>
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<s3>ITA</s3>
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</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Milan</settlement>
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</affiliation>
</author>
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<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Max Planck Institute for Molecular Genetics</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
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<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
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<author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Max Planck Institute for Molecular Genetics</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
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<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Max Planck Institute for Molecular Genetics</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Oehl Jaschkowitz, Barbara" sort="Oehl Jaschkowitz, Barbara" uniqKey="Oehl Jaschkowitz B" first="Barbara" last="Oehl-Jaschkowitz">Barbara Oehl-Jaschkowitz</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Practice of Human Genetics</s1>
<s2>66424 Homburg (Saar)</s2>
<s3>DEU</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>66424 Homburg (Saar)</wicri:noRegion>
<wicri:noRegion>Practice of Human Genetics</wicri:noRegion>
<wicri:noRegion>Practice of Human Genetics</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Skinner, Cindy" sort="Skinner, Cindy" uniqKey="Skinner C" first="Cindy" last="Skinner">Cindy Skinner</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center</s1>
<s2>Greenwood, SC 29646</s2>
<s3>USA</s3>
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<country>États-Unis</country>
<wicri:noRegion>Greenwood, SC 29646</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center</s1>
<s2>Greenwood, SC 29646</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
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<country>États-Unis</country>
<wicri:noRegion>Greenwood, SC 29646</wicri:noRegion>
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<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
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<s2>North Adelaide, SA 5006</s2>
<s3>AUS</s3>
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<country>Australie</country>
<wicri:noRegion>North Adelaide, SA 5006</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Paediatrics, University of Adelaide</s1>
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<s3>AUS</s3>
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<country>Australie</country>
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<country>Belgique</country>
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<s2>37044 Tours</s2>
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<country>France</country>
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<country>France</country>
<wicri:noRegion>75014 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre</s1>
<s2>6500 Nijmegen</s2>
<s3>NLD</s3>
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<country>Pays-Bas</country>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Toniolo, Daniela" sort="Toniolo, Daniela" uniqKey="Toniolo D" first="Daniela" last="Toniolo">Daniela Toniolo</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Division of Genetics and Cell Biology, San Raffaele Scientific Institute</s1>
<s2>20132 Milan</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Institute of Molecular Genetics-CNR</s1>
<s2>20182 Pavia</s2>
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<sZ>22 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Institute of Molecular Genetics-CNR</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="D Adamo, Patrizia" sort="D Adamo, Patrizia" uniqKey="D Adamo P" first="Patrizia" last="D'Adamo">Patrizia D'Adamo</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute</s1>
<s2>20132 Milan</s2>
<s3>ITA</s3>
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<country>Italie</country>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autism</term>
<term>Epilepsy</term>
<term>Gene</term>
<term>Genetic disease</term>
<term>Genetics</term>
<term>Human</term>
<term>Macrocephaly</term>
<term>Mental retardation</term>
<term>Mutation</term>
<term>Neurological disorder</term>
<term>Sex linked character</term>
<term>X-Chromosome</term>
<term>dGTPase</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term>
<term>Autisme</term>
<term>Epilepsie</term>
<term>Mutation</term>
<term>dGTPase</term>
<term>Génétique</term>
<term>Gène</term>
<term>Maladie héréditaire</term>
<term>Chromosome X</term>
<term>Caractère lié au sexe</term>
<term>Trouble neurologique</term>
<term>Macrocéphalie</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Human Mental Retardation (MR) is a common and highly heterogeneous pediatric disorder affecting around 3% of the general population; at least 215 X-linked MR (XLMR) conditions have been described, and mutations have been identified in 83 different genes, encoding proteins with a variety of function, such as chromatin remodeling, synaptic function, and intracellular trafficking. The small GTPases of the RAB family, which play an essential role in intracellular vesicular trafficking, have been shown to be involved in MR. We report here the identification of mutations in the small GTPase RAB39B gene in two male patients. One mutation in family X (D-23) introduced a stop codon seven amino acids after the start codon (c.21C > A; p.Y7X). A second mutation, in the MRX72 family, altered the 5' splice site (c.215+1G > A) and normal splicing. Neither instance produced a protein. Mutations segregate with the disease in the families, and in some family members intellectual disabilities were associated with autism spectrum disorder, epileptic seizures, and macrocephaly. We show that RAB39B, a novel RAB GTPase of unknown function, is a neuronal-specific protein that is localized to the Golgi compartment. Its downregulation leads to an alteration in the number and morphology of neurite growth cones and a significant reduction in presynaptic buttons, suggesting that RAB39B is required for synapse formation and maintenance. Our results demonstrate developmental and functional neuronal alteration as a consequence of downregulation of RAB39B and emphasize the critical role of vesicular trafficking in the development of neurons and human intellectual abilities.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>France</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>États-Unis</li>
</country>
<region><li>Berlin</li>
<li>Gueldre</li>
<li>Lombardie</li>
<li>Province du Brabant flamand</li>
<li>Île-de-France</li>
</region>
<settlement><li>Berlin</li>
<li>Louvain</li>
<li>Milan</li>
<li>Nimègue</li>
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<name sortKey="Cogliati, Francesca" sort="Cogliati, Francesca" uniqKey="Cogliati F" first="Francesca" last="Cogliati">Francesca Cogliati</name>
<name sortKey="D Adamo, Patrizia" sort="D Adamo, Patrizia" uniqKey="D Adamo P" first="Patrizia" last="D'Adamo">Patrizia D'Adamo</name>
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<name sortKey="Larizza, Lidia" sort="Larizza, Lidia" uniqKey="Larizza L" first="Lidia" last="Larizza">Lidia Larizza</name>
<name sortKey="Mignogna, Maria Lidia" sort="Mignogna, Maria Lidia" uniqKey="Mignogna M" first="Maria Lidia" last="Mignogna">Maria Lidia Mignogna</name>
<name sortKey="Russo, Silvia" sort="Russo, Silvia" uniqKey="Russo S" first="Silvia" last="Russo">Silvia Russo</name>
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<name sortKey="Toniolo, Daniela" sort="Toniolo, Daniela" uniqKey="Toniolo D" first="Daniela" last="Toniolo">Daniela Toniolo</name>
<name sortKey="Vecellio, Matteo" sort="Vecellio, Matteo" uniqKey="Vecellio M" first="Matteo" last="Vecellio">Matteo Vecellio</name>
</country>
<country name="Allemagne"><region name="Berlin"><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name>
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<name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name>
<name sortKey="Oehl Jaschkowitz, Barbara" sort="Oehl Jaschkowitz, Barbara" uniqKey="Oehl Jaschkowitz B" first="Barbara" last="Oehl-Jaschkowitz">Barbara Oehl-Jaschkowitz</name>
<name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Skinner, Cindy" sort="Skinner, Cindy" uniqKey="Skinner C" first="Cindy" last="Skinner">Cindy Skinner</name>
</noRegion>
<name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name>
</country>
<country name="Australie"><noRegion><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
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EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007699 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 007699 | SxmlIndent | more

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{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     Pascal:10-0133696
   |texte=   Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly
}}

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

Serveur d'exploration sur les relations entre la France et l'Australie

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

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	Serveur d'exploration sur les relations entre la France et l'Australie
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