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DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Marsh, Ashley P L; Edwards, Timothy J; Galea, Charles; Cooper, Helen M; Engle, Elizabeth C; Jamuar, Saumya S; Méneret, Aurélie; Moutard, Marie-Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer-Smith, Megan; Trouillard, Oriane; Billette de Villemeur, Thierry; Walsh, Christopher A; Yu, Timothy W; Heron, Delphine; Sherr, Elliott H; Richards, Linda J; Depienne, Christel; Leventer, Richard J; Lockhart, Paul J.
Afiliación
  • Marsh APL; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Edwards TJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Galea C; Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane, Australia.
  • Cooper HM; Faculty of Medicine, The University of Queensland, Herston, Brisbane, Australia.
  • Engle EC; Drug Delivery, Disposition and Dynamics (D4), Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
  • Jamuar SS; Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane, Australia.
  • Méneret A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Moutard ML; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Nava C; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.
  • Rastetter A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Robinson G; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Rouleau G; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts.
  • Roze E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Spencer-Smith M; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Trouillard O; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.
  • Billette de Villemeur T; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
  • Walsh CA; Department of Paediatrics, KK Women's and Children's Hospital, Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.
  • Yu TW; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
  • Heron D; Service de Neuropédiatrie, AP-HP, Hôpital Trousseau, Paris, France.
  • Sherr EH; UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.
  • Richards LJ; Centre de référence "Neurogénétique", Paris, France.
  • Depienne C; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
  • Leventer RJ; Département de Génétique, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France.
  • Lockhart PJ; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
Hum Mutat ; 39(1): 23-39, 2018 01.
Article en En | MEDLINE | ID: mdl-29068161
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 (https://databases.lovd.nl/shared/genes/DCC).
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Genes DCC / Estudios de Asociación Genética / Mutación Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Genes DCC / Estudios de Asociación Genética / Mutación Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos