MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
Fiche publication
Date publication
septembre 2023
Journal
European journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel, Dr BONNET Céline
Tous les auteurs :
Sloboda N, Renard E, Lambert L, Bonnet C, Leheup B, Todosi C, Schmitt E, Feillet F, Feigerlova E, Piton A, Journeau P, Klein M, Maillard L, Chelly J, Renaud M
Lien Pubmed
Résumé
Heterozygous variations in microtubule-associated serine/threonine kinase 1 gene (MAST1) were recently described in the mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM, MIM 618273), revealing the importance of the MAST genes family in global brain development. To date, patients with MAST1 gene mutations were mostly young children with central nervous system involvement, impaired motor function, speech delay, and brain magnetic resonance imaging (MRI) abnormalities. Here, we report the clinical presentation of an adult patient with a rare and de novo MAST1 mutation with central hypogonadism that could extend this phenotype.
Mots clés
Epilepsy, Hypogonadotropic hypogonadism, MAST1, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM syndrome), Short stature
Référence
Eur J Med Genet. 2023 09 25;:104853