Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Fiche publication
Date publication
février 2024
Journal
Clinical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence, Pr VABRES Pierre, Mr DUFFOURD Yannis
Tous les auteurs :
Engel C, Chevarin M, Piard J, Abad M, Thomas Q, Carmignac V, Duffourd Y, Lemesle-Martin M, Tarris G, Thauvin-Robinet C, Vabres P, Faivre L, Kuentz P
Lien Pubmed
Résumé
A case of mosaic MTOR-associated hemimegalencephaly and hypomelanosis of Ito, died at 33 probably because of sudden unexpected death in epilepsy. Assessment of the variant allele fraction (VAF) in different tissues postmortem showed high variability not correlated with clinical features, representing the most detailed assessment of VAFs in different tissues to date.
Mots clés
MTOR, SUDEP, hemimegalencephaly, hypomelanosis of Ito, neurodevelopmental disorder
Référence
Clin Genet. 2024 02 20;: