Fiche publication
Date publication
juillet 2026
Journal
Orphanet journal of rare diseases
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Coursimault J, Guillon E, Lecoquierre F, Charbonnier C, Guerrot AM, Goldenberg A, Nicolas G, Schaefer E, Ayrolles A, Delorme R, Riccardi F, Grelet M, Caumes R, Nizon M, Isidor B, Jouret G, Rooryck C, Amiel J, Alaix AS, Morel V, Jacquinet A, Mignot C, Faivre L, Fraile-Caietta E, Chalopin S, Dubern B, Poitou C
Lien Pubmed
Résumé
The MYT1L-related neurodevelopmental disorder (MRND) is associated with global motor and language delay, intellectual disability, behavioural disturbances, epilepsy and frequent early-onset obesity. Eating disturbances have been reported but remain poorly characterized. A systematic characterization of the eating behaviour phenotype is essential to improve diagnosis and management.
Mots clés
MYT1L haploinsufficiency, 2p25.3 deletion, Deep phenotypic characterization, Dykens, Eating behaviours, Rare disease, Standardized questionnaires, Syndromic obesity
Référence
Orphanet J Rare Dis. 2026 07 21;:
