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; 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

doi:10.1038/ng.3794

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 LukicSimone 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

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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.

Original language	English
Pages (from-to)	511-514
Number of pages	4
Journal	Nature Genetics
Volume	49
Issue number	4
DOIs	https://doi.org/10.1038/ng.3794
Publication status	Published - 30 Mar 2017
Externally published	Yes

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Marsh, A. P. L., Heron, D., Edwards, T. J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M. L., Anderson, V., Bitoun, P., Bunt, J., Faudet, A., Garel, C., Gillies, G., Gobius, I., Guegan, J., Heide, S., Keren, B., Lesne, F., ... 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

@article{56deab20fc604b19a84ea6143308902d,

title = "Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance",

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.",

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

note = "Funding Information: T.J.E. is supported by a University of Queensland Research Scholarship, and A.P. is supported by a QBI PhD scholarship. S.H. and A.Q. are respectively supported by a masters and a doctoral grant from the Fondation pour la Recherche Medicale (FRM).",

year = "2017",

month = mar,

day = "30",

doi = "10.1038/ng.3794",

language = "English",

volume = "49",

pages = "511--514",

journal = "Nature Genetics",

issn = "1061-4036",

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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

TY - JOUR

T1 - Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

AU - Marsh, Ashley P.L.

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

N1 - Funding Information: T.J.E. is supported by a University of Queensland Research Scholarship, and A.P. is supported by a QBI PhD scholarship. S.H. and A.Q. are respectively supported by a masters and a doctoral grant from the Fondation pour la Recherche Medicale (FRM).

PY - 2017/3/30

Y1 - 2017/3/30

N2 - 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.

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.

UR - https://www.mendeley.com/catalogue/e616ad5e-389c-33e7-95d2-d8e0154967f9/

U2 - 10.1038/ng.3794

DO - 10.1038/ng.3794

M3 - Article

C2 - 28250454

SN - 1061-4036

VL - 49

SP - 511

EP - 514

JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -

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

Abstract

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