DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome
Ashley Marsh
(1, 2)
,
Timothy Edwards
(3, 4)
,
Charles Galea
(5)
,
Helen Cooper
(3)
,
Elizabeth Engle
(6, 7, 8)
,
Saumya Jamuar
(6, 7, 9)
,
Aurélie Méneret
(10, 11)
,
Marie-Laure Moutard
(12, 13)
,
Caroline Nava
(10, 11)
,
Agnès Rastetter
(10)
,
Gail Robinson
(4)
,
Guy Rouleau
(14, 15)
,
Emmanuel Roze
(10, 11)
,
Megan Spencer-Smith
(1, 16)
,
Oriane Trouillard
(10)
,
Thierry Billette de Villemeur
(12, 13, 17)
,
Christopher Walsh
(6, 7, 8)
,
Timothy Yu
(6, 7, 8)
,
Delphine Heron
(13, 11)
,
Elliott Sherr
(18)
,
Linda Richards
(4)
,
Christel Depienne
(19, 10, 11, 20)
,
Richard Leventer
(2, 1)
,
Paul Lockhart
(2, 1)
1
MCRI -
Murdoch Children's Research Institute
2 University of Melbourne
3 Queensland Brain Institute
4 UQ [All campuses : Brisbane, Dutton Park Gatton, Herston, St Lucia and other locations] - The University of Queensland
5 Monash University [Parkville, VIC, Australie]
6 Boston Children's Hospital
7 HMS - Harvard Medical School [Boston]
8 MIT - Massachusetts Institute of Technology
9 KK Women's and Children's Hospital [Singapore]
10 ICM - Institut du Cerveau = Paris Brain Institute
11 CHU Pitié-Salpêtrière [AP-HP]
12 CHU Trousseau [APHP]
13 UPMC - Université Pierre et Marie Curie - Paris 6
14 MUHC - McGill University Health Center [Montreal]
15 McGill University = Université McGill [Montréal, Canada]
16 Monash University [Clayton]
17 NeuroDiderot (UMR_S_1141 / U1141) - Maladies neurodéveloppementales et neurovasculaires
18 UCSF Benioff Children's Hospital Oakland
19 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire
20 HUS - Les Hôpitaux Universitaires de Strasbourg
2 University of Melbourne
3 Queensland Brain Institute
4 UQ [All campuses : Brisbane, Dutton Park Gatton, Herston, St Lucia and other locations] - The University of Queensland
5 Monash University [Parkville, VIC, Australie]
6 Boston Children's Hospital
7 HMS - Harvard Medical School [Boston]
8 MIT - Massachusetts Institute of Technology
9 KK Women's and Children's Hospital [Singapore]
10 ICM - Institut du Cerveau = Paris Brain Institute
11 CHU Pitié-Salpêtrière [AP-HP]
12 CHU Trousseau [APHP]
13 UPMC - Université Pierre et Marie Curie - Paris 6
14 MUHC - McGill University Health Center [Montreal]
15 McGill University = Université McGill [Montréal, Canada]
16 Monash University [Clayton]
17 NeuroDiderot (UMR_S_1141 / U1141) - Maladies neurodéveloppementales et neurovasculaires
18 UCSF Benioff Children's Hospital Oakland
19 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire
20 HUS - Les Hôpitaux Universitaires de Strasbourg
Caroline Nava
- Fonction : Auteur
- PersonId : 765521
- ORCID : 0000-0003-1272-0518
Guy Rouleau
- Fonction : Auteur
- PersonId : 764544
- ORCID : 0000-0001-8403-1418
Emmanuel Roze
- Fonction : Auteur
- PersonId : 758800
- ORCID : 0000-0002-7404-591X
Résumé
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.
Domaines
GénétiqueFormat du dépôt | Notice |
---|---|
Type de dépôt | Article dans une revue |
Titre |
en
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome
|
Résumé |
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.
|
Auteur(s) |
Ashley Marsh
1, 2
, Timothy Edwards
3, 4
, Charles Galea
5
, Helen Cooper
3
, Elizabeth Engle
6, 7, 8
, Saumya Jamuar
6, 7, 9
, Aurélie Méneret
10, 11
, Marie-Laure Moutard
12, 13
, Caroline Nava
10, 11
, Agnès Rastetter
10
, Gail Robinson
4
, Guy Rouleau
14, 15
, Emmanuel Roze
10, 11
, Megan Spencer-Smith
1, 16
, Oriane Trouillard
10
, Thierry Billette de Villemeur
12, 13, 17
, Christopher Walsh
6, 7, 8
, Timothy Yu
6, 7, 8
, Delphine Heron
13, 11
, Elliott Sherr
18
, Linda Richards
4
, Christel Depienne
19, 10, 11, 20
, Richard Leventer
2, 1
, Paul Lockhart
2, 1
1
MCRI -
Murdoch Children's Research Institute
( 335176 )
- Royal Children’s Hospital, Flemington Rd, Parkville VIC 3052, Australie
- Australie
2
University of Melbourne
( 306322 )
- Parkville VIC 3010
- Australie
3
Queensland Brain Institute
( 231802 )
- Brisbane
- Australie
4
UQ [All campuses : Brisbane, Dutton Park Gatton, Herston, St Lucia and other locations] -
The University of Queensland
( 250752 )
- Brisbane, St Lucia, QLD 4072
- Australie
5
Monash University [Parkville, VIC, Australie]
( 1053779 )
- Australie
6
Boston Children's Hospital
( 330064 )
- 300 Longwood Ave, Boston, MA 02115
- États-Unis
7
HMS -
Harvard Medical School [Boston]
( 130467 )
- 25 Shattuck Street Boston, MA 02115
- États-Unis
8
MIT -
Massachusetts Institute of Technology
( 301950 )
- 77 Massachusetts Ave, Cambridge, MA 02139
- États-Unis
9
KK Women's and Children's Hospital [Singapore]
( 468265 )
- 100 Bukit Timah Road, Singapour 229899
- Singapour
10
ICM -
Institut du Cerveau = Paris Brain Institute
( 542029 )
- 47-83 Boulevard de l'Hôpital 75651 Paris Cedex 13
- France
11
CHU Pitié-Salpêtrière [AP-HP]
( 353778 )
- 47-83 Boulevard de l'Hôpital, 75013 Paris
- France
12
CHU Trousseau [APHP]
( 360410 )
- 26 Avenue du Dr Arnold Netter, 75012 Paris
- France
13
UPMC -
Université Pierre et Marie Curie - Paris 6
( 93591 )
- 4 place Jussieu - 75005 Paris
- France
14
MUHC -
McGill University Health Center [Montreal]
( 493900 )
- 1001 Décarie Boulevard, Montreal, QC H4A 3J1
- Canada
15
McGill University = Université McGill [Montréal, Canada]
( 134741 )
- 845, rue Sherbrooke O. Montréal (Québec) Canada H3A 0G4
- Canada
16
Monash University [Clayton]
( 419018 )
- Clayton, VIC 3800, Australia
- Australie
17
NeuroDiderot (UMR_S_1141 / U1141) -
Maladies neurodéveloppementales et neurovasculaires
( 1005068 )
- Hôpital Robert Debré
48 Bd Serurier
75019 Paris
- France
18
UCSF Benioff Children's Hospital Oakland
( 563776 )
- 747 52nd St, Oakland, CA 94609, États-Unis
- États-Unis
19
IGBMC -
Institut de Génétique et de Biologie Moléculaire et Cellulaire
( 93800 )
- Parc D'Innovation 1 Rue Laurent Fries - BP 10142 67404 Illkirch Cedex
- France
20
HUS -
Les Hôpitaux Universitaires de Strasbourg
( 211628 )
- 1 place de l'hôpital BP 426 67091 Strasbourg cedex
- France
|
Langue du document |
Anglais
|
Date de production/écriture |
2017
|
Nom de la revue |
|
Vulgarisation |
Non
|
Comité de lecture |
Oui
|
Audience |
Non spécifiée
|
Date de publication |
2017
|
Volume |
39
|
Numéro |
1
|
Page/Identifiant |
23-39
|
URL éditeur |
http://www.ncbi.nlm.nih.gov/pubmed/29068161
|
Domaine(s) |
|
Mots-clés |
en
ACC, DCC, NTN1, Netrin-1, agenesis of the corpus callosum, axon guidance, developmental split brain syndrome, horizontal gaze palsy with progressive scoliosis, mirror movements, mutation
|
DOI | 10.1002/humu.23361 |
Pubmed Id | 29068161 |
PubMed Central | PMC5722687 |
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