Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P L Marsh, Delphine Heron, Timothy J. Edwards, Angélique Quartier, Charles Galea, Caroline Nava, Agnès Rastetter, Marie Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic & 33 others Simone A. Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura R. Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail A. Robinson, Megan Spencer-Smith, Myriam Srour, Sarah E M Stephenson, Rick Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy Rouleau, Tania Attié-Bitach, Martin B. Delatycki, Jean Louis Mandel, David J. Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette De Villemeur, Elliott H. Sherr, Richard J. Leventer, Linda J. Richards, Paul J. Lockhart, Christel Depienne

Research output: Contribution to journalArticleResearchpeer-review

26 Citations (Scopus)

Abstract

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

Original languageEnglish
Pages (from-to)511-514
Number of pages4
JournalNature Genetics
Volume49
Issue number4
DOIs
Publication statusPublished - Apr 2017

Keywords

  • developmental biology
  • genetics
  • neurodevelopmental disorders
  • neuroscience

Cite this

Marsh, A. P. L., Heron, D., Edwards, T. J., Quartier, A., Galea, C., Nava, C., ... Depienne, C. (2017). Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics, 49(4), 511-514. https://doi.org/10.1038/ng.3794
Marsh, Ashley P L ; Heron, Delphine ; Edwards, Timothy J. ; Quartier, Angélique ; Galea, Charles ; Nava, Caroline ; Rastetter, Agnès ; Moutard, Marie Laure ; Anderson, Vicki ; Bitoun, Pierre ; Bunt, Jens ; Faudet, Anne ; Garel, Catherine ; Gillies, Greta ; Gobius, Ilan ; Guegan, Justine ; Heide, Solveig ; Keren, Boris ; Lesne, Fabien ; Lukic, Vesna ; Mandelstam, Simone A. ; McGillivray, George ; McIlroy, Alissandra ; Méneret, Aurélie ; Mignot, Cyril ; Morcom, Laura R. ; Odent, Sylvie ; Paolino, Annalisa ; Pope, Kate ; Riant, Florence ; Robinson, Gail A. ; Spencer-Smith, Megan ; Srour, Myriam ; Stephenson, Sarah E M ; Tankard, Rick ; Trouillard, Oriane ; Welniarz, Quentin ; Wood, Amanda ; Brice, Alexis ; Rouleau, Guy ; Attié-Bitach, Tania ; Delatycki, Martin B. ; Mandel, Jean Louis ; Amor, David J. ; Roze, Emmanuel ; Piton, Amélie ; Bahlo, Melanie ; Billette De Villemeur, Thierry ; Sherr, Elliott H. ; Leventer, Richard J. ; Richards, Linda J. ; Lockhart, Paul J. ; Depienne, Christel. / Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. In: Nature Genetics. 2017 ; Vol. 49, No. 4. pp. 511-514.
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abstract = "Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.",
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Marsh, APL, Heron, D, Edwards, TJ, Quartier, A, Galea, C, Nava, C, Rastetter, A, Moutard, ML, Anderson, V, Bitoun, P, Bunt, J, Faudet, A, Garel, C, Gillies, G, Gobius, I, Guegan, J, Heide, S, Keren, B, Lesne, F, Lukic, V, Mandelstam, SA, McGillivray, G, McIlroy, A, Méneret, A, Mignot, C, Morcom, LR, Odent, S, Paolino, A, Pope, K, Riant, F, Robinson, GA, Spencer-Smith, M, Srour, M, Stephenson, SEM, Tankard, R, Trouillard, O, Welniarz, Q, Wood, A, Brice, A, Rouleau, G, Attié-Bitach, T, Delatycki, MB, Mandel, JL, Amor, DJ, Roze, E, Piton, A, Bahlo, M, Billette De Villemeur, T, Sherr, EH, Leventer, RJ, Richards, LJ, Lockhart, PJ & Depienne, C 2017, 'Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance', Nature Genetics, vol. 49, no. 4, pp. 511-514. https://doi.org/10.1038/ng.3794

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. / Marsh, Ashley P L; Heron, Delphine; Edwards, Timothy J.; Quartier, Angélique; Galea, Charles; Nava, Caroline; Rastetter, Agnès; Moutard, Marie Laure; Anderson, Vicki; Bitoun, Pierre; Bunt, Jens; Faudet, Anne; Garel, Catherine; Gillies, Greta; Gobius, Ilan; Guegan, Justine; Heide, Solveig; Keren, Boris; Lesne, Fabien; Lukic, Vesna; Mandelstam, Simone A.; McGillivray, George; McIlroy, Alissandra; Méneret, Aurélie; Mignot, Cyril; Morcom, Laura R.; Odent, Sylvie; Paolino, Annalisa; Pope, Kate; Riant, Florence; Robinson, Gail A.; Spencer-Smith, Megan; Srour, Myriam; Stephenson, Sarah E M; Tankard, Rick; Trouillard, Oriane; Welniarz, Quentin; Wood, Amanda; Brice, Alexis; Rouleau, Guy; Attié-Bitach, Tania; Delatycki, Martin B.; Mandel, Jean Louis; Amor, David J.; Roze, Emmanuel; Piton, Amélie; Bahlo, Melanie; Billette De Villemeur, Thierry; Sherr, Elliott H.; Leventer, Richard J.; Richards, Linda J.; Lockhart, Paul J.; Depienne, Christel.

In: Nature Genetics, Vol. 49, No. 4, 04.2017, p. 511-514.

Research output: Contribution to journalArticleResearchpeer-review

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AU - Heron, Delphine

AU - Edwards, Timothy J.

AU - Quartier, Angélique

AU - Galea, Charles

AU - Nava, Caroline

AU - Rastetter, Agnès

AU - Moutard, Marie Laure

AU - Anderson, Vicki

AU - Bitoun, Pierre

AU - Bunt, Jens

AU - Faudet, Anne

AU - Garel, Catherine

AU - Gillies, Greta

AU - Gobius, Ilan

AU - Guegan, Justine

AU - Heide, Solveig

AU - Keren, Boris

AU - Lesne, Fabien

AU - Lukic, Vesna

AU - Mandelstam, Simone A.

AU - McGillivray, George

AU - McIlroy, Alissandra

AU - Méneret, Aurélie

AU - Mignot, Cyril

AU - Morcom, Laura R.

AU - Odent, Sylvie

AU - Paolino, Annalisa

AU - Pope, Kate

AU - Riant, Florence

AU - Robinson, Gail A.

AU - Spencer-Smith, Megan

AU - Srour, Myriam

AU - Stephenson, Sarah E M

AU - Tankard, Rick

AU - Trouillard, Oriane

AU - Welniarz, Quentin

AU - Wood, Amanda

AU - Brice, Alexis

AU - Rouleau, Guy

AU - Attié-Bitach, Tania

AU - Delatycki, Martin B.

AU - Mandel, Jean Louis

AU - Amor, David J.

AU - Roze, Emmanuel

AU - Piton, Amélie

AU - Bahlo, Melanie

AU - Billette De Villemeur, Thierry

AU - Sherr, Elliott H.

AU - Leventer, Richard J.

AU - Richards, Linda J.

AU - Lockhart, Paul J.

AU - Depienne, Christel

PY - 2017/4

Y1 - 2017/4

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AB - Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

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KW - genetics

KW - neurodevelopmental disorders

KW - neuroscience

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U2 - 10.1038/ng.3794

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SN - 1061-4036

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Marsh APL, Heron D, Edwards TJ, Quartier A, Galea C, Nava C et al. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics. 2017 Apr;49(4):511-514. https://doi.org/10.1038/ng.3794