Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
Fiche publication
Date publication
juin 2015
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B
Lien Pubmed
Résumé
Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is believed to be a critical gene responsible for intellectual disability, so far no unequivocal data have confirmed this hypothesis.
Mots clés
Adolescent, Adult, Animals, Child, Child, Preschool, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 2, Cohort Studies, Facies, Female, Gene Duplication, Gene Expression, Genetic Association Studies, Humans, Intellectual Disability, genetics, Male, Middle Aged, Nerve Tissue Proteins, genetics, Obesity, genetics, Point Mutation, Transcription Factors, genetics, Young Adult, Zebrafish
Référence
Genet. Med.. 2015 Jun;17(6):460-6