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

A.P.L. Marsh; D. Heron; T.J. Edwards; A. Quartier; C. Galea; C. Nava; A. Rastetter; M-L Moutard; V. Anderson; P. Bitoun; J. Bunt; A. Faudet; C. Garel; G. Gillies; I. Gobius; J. Guegan; S. Heide; B. Keren; F. Lesne; V. Lukic; S.A. Mandelstam; G. McGillivray; A. McIlroy; A. Méneret; C. Mignot; L.R. Morcom; S. Odent; A. Paolino; K. Pope; F. Riant; G.A. Robinson; M. Spencer-Smith; M. Srour; S.E.M. Stephenson; R. Tankard; O. Trouillard; Q. Welniarz; A. Wood; A. Brice; G. Rouleau; T. Attié-Bitach; M.B. Delatycki; J-L Mandel; D.J. Amor; E. Roze; A. Piton; M. Bahlo; T. Billette de Villemeur; E.H. Sherr; R.J. Leventer; L.J. Richards; P.J. Lockhart; C. Depienne

doi:10.1038/ng.3794

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

Journal article

Peer reviewed

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

A.P.L. Marsh, D. Heron, T.J. Edwards, A. Quartier, C. Galea, C. Nava, A. Rastetter, M-L Moutard, V. Anderson, P. Bitoun, …

Nature Genetics, Vol.49(4), pp.511-514

2017

DOI: https://doi.org/10.1038/ng.3794

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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.

Details

Title: Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Authors/Creators: A.P.L. Marsh (Author/Creator)
D. Heron (Author/Creator)
T.J. Edwards (Author/Creator)
A. Quartier (Author/Creator)
C. Galea (Author/Creator)
C. Nava (Author/Creator)
A. Rastetter (Author/Creator)
M-L Moutard (Author/Creator)
V. Anderson (Author/Creator)
P. Bitoun (Author/Creator)
J. Bunt (Author/Creator)
A. Faudet (Author/Creator)
C. Garel (Author/Creator)
G. Gillies (Author/Creator)
I. Gobius (Author/Creator)
J. Guegan (Author/Creator)
S. Heide (Author/Creator)
B. Keren (Author/Creator)
F. Lesne (Author/Creator)
V. Lukic (Author/Creator)
S.A. Mandelstam (Author/Creator)
G. McGillivray (Author/Creator)
A. McIlroy (Author/Creator)
A. Méneret (Author/Creator)
C. Mignot (Author/Creator)
L.R. Morcom (Author/Creator)
S. Odent (Author/Creator)
A. Paolino (Author/Creator)
K. Pope (Author/Creator)
F. Riant (Author/Creator)
G.A. Robinson (Author/Creator)
M. Spencer-Smith (Author/Creator)
M. Srour (Author/Creator)
S.E.M. Stephenson (Author/Creator)
R. Tankard (Author/Creator)
O. Trouillard (Author/Creator)
Q. Welniarz (Author/Creator)
A. Wood (Author/Creator)
A. Brice (Author/Creator)
G. Rouleau (Author/Creator)
T. Attié-Bitach (Author/Creator)
M.B. Delatycki (Author/Creator)
J-L Mandel (Author/Creator)
D.J. Amor (Author/Creator)
E. Roze (Author/Creator)
A. Piton (Author/Creator)
M. Bahlo (Author/Creator)
T. Billette de Villemeur (Author/Creator)
E.H. Sherr (Author/Creator)
R.J. Leventer (Author/Creator)
L.J. Richards (Author/Creator)
P.J. Lockhart (Author/Creator)
C. Depienne (Author/Creator)
Publication Details: Nature Genetics, Vol.49(4), pp.511-514
Publisher: Nature Research
Identifiers: 991005541404207891
Copyright: © 2017 Nature America, Inc., part of Springer Nature.
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.257 Birth defects; 1.257.983 Hydrocephalus Management
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics