Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

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

https://www.ncbi.nlm.nih.gov/pubmed/25232846

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