Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Open accessAbstract
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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Loss-of-function mutations in DCC cause severe neurodevelopmental syndromes involving loss of midline commissural tracts and diffuse disorganization of white matter tracts.
“Loss-of-function mutations in DCC cause severe neurodevelopmental syndromes involving loss of midline commissural tracts and diffuse disorganization of white matter tracts (Bendriem and Ross, 2017; Jamuar et al., 2017; Marsh et al., 2017).”
From Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders (2019) · cites this paper as Marsh et al., 2017
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- Srour, M. et al. Science 328, 592 (2010).
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Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders
Lee, P. H., Anttila, V., Won, H., Feng, Y.-C. A., Rosenthal, J., Zhu, Z., Tucker-Drob, E. M., Nivard, M. G., Grotzinger, A. D., Posthuma, D., et al. (2019) · Cell · doi:10.1016/j.cell.2019.11.020 · Cited by 1,381 · see citing works
“Loss-of-function mutations in DCC cause severe neuro-developmental syndromes involving loss of midline commissural tracts and diffuse disorganization of white matter tracts (Bend-riem and Ross, 2017; Jamuar et al., 2017; Marsh et al., 2017).”
BackgroundSelf-citation
- Authors
- 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., Lukic, V., Mandelstam, S. A., McGillivray, G., McIlroy, A., Méneret, A., Mignot, C., Morcom, L. R., Odent, S., Paolino, A., Pope, K., Riant, F., Robinson, G. A., Spencer-Smith, M., Srour, M., Stephenson, S. E. M., Tankard, R., Trouillard, O., Welniarz, Q., Wood, A., Brice, A., Rouleau, G., Attié-Bitach, T., Delatycki, M. B., Mandel, J.-L., Amor, D. J., Roze, E., Piton, A., Bahlo, M., Billette de Villemeur, T., Sherr, E. H., Leventer, R. J., Richards, L. J., Lockhart, P. J., & Depienne, C.
- Affiliations
- Royal Children's Hospital (AU)
- The University of Queensland (AU)
- Centre National de la Recherche Scientifique (FR)
- Monash University (AU)
- Sorbonne Université (FR)
- Murdoch Children's Research Institute (AU)
- Hôpital Jean-Verdier (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Walter and Eliza Hall Institute of Medical Research (AU)
- Victorian Clinical Genetics Services (AU)
- Montreal Children's Hospital (CA)
- The University of Melbourne (AU)
- Aston University (GB)
- Montreal Neurological Institute and Hospital (CA)
- University of California, San Francisco (US)
- Corresponding author
- Richards, Linda J
- Lockhart, Paul J
- Depienne, Christel
- ORCID
- Marsh, Ashley P L
- Edwards, Timothy J
- Quartier, Angélique
- Galea, Charles
- Nava, Caroline
- Moutard, Marie-Laure
- Anderson, Vicki
- Bitoun, Pierre
- Bunt, Jens
- Gobius, Ilan
- Heide, Solveig
- Keren, Boris
- Lesne, Fabien
- 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
- Srour, Myriam
- Stephenson, Sarah E M
- Tankard, Rick
- Trouillard, Oriane
- Welniarz, Quentin
- Wood, Amanda
- Brice, Alexis
- Rouleau, Guy
- Delatycki, Martin B
- Mandel, Jean-Louis
- Amor, David J
- Roze, Emmanuel
- Piton, Amélie
- Bahlo, Melanie
- Sherr, Elliott H
- Leventer, Richard J
- Richards, Linda J
- Lockhart, Paul J
- Depienne, Christel
- Venue
- Nature Genetics
- Published
- 2017-02-27
- Volume
- 49
- Issue
- 4
- Pages
- 511-514
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC5894478
- OpenAlex
- W2591782339
- Cited by
- 101
- References
- 0
- Citations by year
- 2026: 3 · 2025: 10 · 2024: 14 · 2023: 8 · 2022: 5 · 2021: 9 · 2020: 14 · 2019: 16 · 2018: 14 · 2017: 8
- FWCI
- 15.53
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Aston Publications Explorer (Aston University) (submittedVersion)
- Murdoch University Research Portal (submittedVersion)
- HAL (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion)
- Figshare (submittedVersion)
- Funders
- Agence Nationale de la Recherche (ANR-10-IDEX-0002, ANR-10-LABX-0030, ANR-10-IAHU-0006)
- National Health and Medical Research Council (1048849, 1064174, 1059666)
- National Institute of Neurological Disorders and Stroke (R01NS058721)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Keywords
- DCC gene, agenesis of the corpus callosum, incomplete penetrance, mirror movements, corpus callosum malformation, developmental prognosis, phenotypic variability, brain malformations
- MeSH terms
- Abnormalities, Multiple, DCC Receptor, Brain, Developmental Disabilities, Corpus Callosum, Family, Female, Humans, Male, Mutation, Nervous System Malformations, Phenotype, Receptors, Cell Surface, Penetrance, Tumor Suppressor Proteins, Neural Stem Cells, Agenesis of Corpus Callosum
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