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 , Pr THAUVIN-ROBINET Christel , Pr KUENTZ Paul

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

https://www.ncbi.nlm.nih.gov/pubmed/38379111

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.