DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Identifieur interne : 000E83 ( Main/Exploration ); précédent : 000E82; suivant : 000E84DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Auteurs : Ashley P L. Marsh [Australie] ; Timothy J. Edwards [Australie] ; Charles Galea [Australie] ; Helen M. Cooper [Australie] ; Elizabeth C. Engle [États-Unis] ; Saumya S. Jamuar [États-Unis] ; Aurélie Méneret [France] ; Marie-Laure Moutard [France] ; Caroline Nava [France] ; Agnès Rastetter [France] ; Gail Robinson [Australie] ; Guy Rouleau [Canada] ; Emmanuel Roze [France] ; Megan Spencer-Smith [Australie] ; Oriane Trouillard [France] ; Thierry Billette De Villemeur [France] ; Christopher A. Walsh [États-Unis] ; Timothy W. Yu [États-Unis] ; Delphine Heron [France] ; Elliott H. Sherr [États-Unis] ; Linda J. Richards [Australie] ; Christel Depienne [France] ; Richard J. Leventer [Australie] ; Paul J. Lockhart [Australie]Source :
- Human mutation [ 1098-1004 ] ; 2017.
Abstract
The deleted in colorectal cancer (DCC) gene encodes the netrin-1 (NTN1) receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense, and predicted loss-of-function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum (ACC), or both. Biallelic, predicted loss-of-function DCC mutations cause developmental split brain syndrome (DSBS). Although the underlying molecular mechanisms leading to disease remain poorly understood, they are thought to stem from reduced or perturbed NTN1 signaling. Here, we review the 26 reported DCC mutations associated with abnormal CNS development in humans, including 14 missense and 12 predicted loss-of-function mutations, and discuss their associated clinical characteristics and diagnostic features. We provide an update on the observed genotype-phenotype relationships of congenital mirror movements, isolated ACC and DSBS, and correlate this to our current understanding of the biological function of DCC in the development of the CNS. All mutations and their associated phenotypes were deposited into a locus-specific LOVD (https://databases.lovd.nl/shared/genes/DCC).
DOI: 10.1002/humu.23361
PubMed: 29068161
Affiliations:
- Australie, Canada, France, États-Unis
- Californie, Massachusetts, Victoria (État), Île-de-France
- Melbourne, Paris
- Université de Melbourne
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000240
- to stream PubMed, to step Curation: 000239
- to stream PubMed, to step Checkpoint: 000239
- to stream Ncbi, to step Merge: 005097
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Le document en format XML
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<affiliation wicri:level="3"><nlm:affiliation>INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rastetter, Agnes" sort="Rastetter, Agnes" uniqKey="Rastetter A" first="Agnès" last="Rastetter">Agnès Rastetter</name>
<affiliation wicri:level="3"><nlm:affiliation>INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Robinson, Gail" sort="Robinson, Gail" uniqKey="Robinson G" first="Gail" last="Robinson">Gail Robinson</name>
<affiliation wicri:level="1"><nlm:affiliation>Neuropsychology Research Unit, School of Psychology, The University of Queensland, Brisbane, Queensland, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Neuropsychology Research Unit, School of Psychology, The University of Queensland, Brisbane, Queensland</wicri:regionArea>
<wicri:noRegion>Queensland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Neurosurgery, McGill University Health Center, Montreal, Quebec, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Neurology and Neurosurgery, McGill University Health Center, Montreal, Quebec</wicri:regionArea>
<wicri:noRegion>Quebec</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<affiliation wicri:level="3"><nlm:affiliation>INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Spencer Smith, Megan" sort="Spencer Smith, Megan" uniqKey="Spencer Smith M" first="Megan" last="Spencer-Smith">Megan Spencer-Smith</name>
<affiliation wicri:level="1"><nlm:affiliation>Clinical Sciences, Murdoch Children's Research Institute, Parkville, Victoria, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Clinical Sciences, Murdoch Children's Research Institute, Parkville, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Trouillard, Oriane" sort="Trouillard, Oriane" uniqKey="Trouillard O" first="Oriane" last="Trouillard">Oriane Trouillard</name>
<affiliation wicri:level="3"><nlm:affiliation>INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Billette De Villemeur, Thierry" sort="Billette De Villemeur, Thierry" uniqKey="Billette De Villemeur T" first="Thierry" last="Billette De Villemeur">Thierry Billette De Villemeur</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Neuropédiatrie, AP-HP, Hôpital Trousseau, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neuropédiatrie, AP-HP, Hôpital Trousseau, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Walsh, Christopher A" sort="Walsh, Christopher A" uniqKey="Walsh C" first="Christopher A" last="Walsh">Christopher A. Walsh</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Division of Genetics and Genomics, Boston Children's Hospital, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Yu, Timothy W" sort="Yu, Timothy W" uniqKey="Yu T" first="Timothy W" last="Yu">Timothy W. Yu</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Division of Genetics and Genomics, Boston Children's Hospital, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Heron">Delphine Heron</name>
<affiliation wicri:level="3"><nlm:affiliation>UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>UPMC, GRC ConCer-LD, Sorbonne Université, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sherr, Elliott H" sort="Sherr, Elliott H" uniqKey="Sherr E" first="Elliott H" last="Sherr">Elliott H. Sherr</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, UCSF Benioff Children's Hospital, San Francisco, California.</nlm:affiliation>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Department of Neurology, UCSF Benioff Children's Hospital, San Francisco</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Richards, Linda J" sort="Richards, Linda J" uniqKey="Richards L" first="Linda J" last="Richards">Linda J. Richards</name>
<affiliation wicri:level="1"><nlm:affiliation>Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
<affiliation wicri:level="3"><nlm:affiliation>INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J" last="Leventer">Richard J. Leventer</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Paediatrics, University of Melbourne, Parkville, Victoria</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J" last="Lockhart">Paul J. Lockhart</name>
<affiliation wicri:level="1"><nlm:affiliation>Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Human mutation</title>
<idno type="eISSN">1098-1004</idno>
<imprint><date when="2017" type="published">2017</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The deleted in colorectal cancer (DCC) gene encodes the netrin-1 (NTN1) receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense, and predicted loss-of-function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum (ACC), or both. Biallelic, predicted loss-of-function DCC mutations cause developmental split brain syndrome (DSBS). Although the underlying molecular mechanisms leading to disease remain poorly understood, they are thought to stem from reduced or perturbed NTN1 signaling. Here, we review the 26 reported DCC mutations associated with abnormal CNS development in humans, including 14 missense and 12 predicted loss-of-function mutations, and discuss their associated clinical characteristics and diagnostic features. We provide an update on the observed genotype-phenotype relationships of congenital mirror movements, isolated ACC and DSBS, and correlate this to our current understanding of the biological function of DCC in the development of the CNS. All mutations and their associated phenotypes were deposited into a locus-specific LOVD (https://databases.lovd.nl/shared/genes/DCC).</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Canada</li>
<li>France</li>
<li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Massachusetts</li>
<li>Victoria (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Melbourne</li>
<li>Paris</li>
</settlement>
<orgName><li>Université de Melbourne</li>
</orgName>
</list>
<tree><country name="Australie"><noRegion><name sortKey="Marsh, Ashley P L" sort="Marsh, Ashley P L" uniqKey="Marsh A" first="Ashley P L" last="Marsh">Ashley P L. Marsh</name>
</noRegion>
<name sortKey="Cooper, Helen M" sort="Cooper, Helen M" uniqKey="Cooper H" first="Helen M" last="Cooper">Helen M. Cooper</name>
<name sortKey="Edwards, Timothy J" sort="Edwards, Timothy J" uniqKey="Edwards T" first="Timothy J" last="Edwards">Timothy J. Edwards</name>
<name sortKey="Galea, Charles" sort="Galea, Charles" uniqKey="Galea C" first="Charles" last="Galea">Charles Galea</name>
<name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J" last="Leventer">Richard J. Leventer</name>
<name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J" last="Lockhart">Paul J. Lockhart</name>
<name sortKey="Richards, Linda J" sort="Richards, Linda J" uniqKey="Richards L" first="Linda J" last="Richards">Linda J. Richards</name>
<name sortKey="Robinson, Gail" sort="Robinson, Gail" uniqKey="Robinson G" first="Gail" last="Robinson">Gail Robinson</name>
<name sortKey="Spencer Smith, Megan" sort="Spencer Smith, Megan" uniqKey="Spencer Smith M" first="Megan" last="Spencer-Smith">Megan Spencer-Smith</name>
</country>
<country name="États-Unis"><region name="Massachusetts"><name sortKey="Engle, Elizabeth C" sort="Engle, Elizabeth C" uniqKey="Engle E" first="Elizabeth C" last="Engle">Elizabeth C. Engle</name>
</region>
<name sortKey="Jamuar, Saumya S" sort="Jamuar, Saumya S" uniqKey="Jamuar S" first="Saumya S" last="Jamuar">Saumya S. Jamuar</name>
<name sortKey="Sherr, Elliott H" sort="Sherr, Elliott H" uniqKey="Sherr E" first="Elliott H" last="Sherr">Elliott H. Sherr</name>
<name sortKey="Walsh, Christopher A" sort="Walsh, Christopher A" uniqKey="Walsh C" first="Christopher A" last="Walsh">Christopher A. Walsh</name>
<name sortKey="Yu, Timothy W" sort="Yu, Timothy W" uniqKey="Yu T" first="Timothy W" last="Yu">Timothy W. Yu</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Meneret, Aurelie" sort="Meneret, Aurelie" uniqKey="Meneret A" first="Aurélie" last="Méneret">Aurélie Méneret</name>
</region>
<name sortKey="Billette De Villemeur, Thierry" sort="Billette De Villemeur, Thierry" uniqKey="Billette De Villemeur T" first="Thierry" last="Billette De Villemeur">Thierry Billette De Villemeur</name>
<name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
<name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Heron">Delphine Heron</name>
<name sortKey="Moutard, Marie Laure" sort="Moutard, Marie Laure" uniqKey="Moutard M" first="Marie-Laure" last="Moutard">Marie-Laure Moutard</name>
<name sortKey="Nava, Caroline" sort="Nava, Caroline" uniqKey="Nava C" first="Caroline" last="Nava">Caroline Nava</name>
<name sortKey="Rastetter, Agnes" sort="Rastetter, Agnes" uniqKey="Rastetter A" first="Agnès" last="Rastetter">Agnès Rastetter</name>
<name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<name sortKey="Trouillard, Oriane" sort="Trouillard, Oriane" uniqKey="Trouillard O" first="Oriane" last="Trouillard">Oriane Trouillard</name>
</country>
<country name="Canada"><noRegion><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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