Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Clin Genet. 2024 Feb 20. doi: 10.1111/cge.14511. Online ahead of print.ABSTRACTA 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.PMID:38379111 | DOI:10.1111/cge.14511

Source: Clinical Genetics - February 21, 2024 Category: Genetics & Stem Cells Authors: Camille Engel Martin Chevarin Juliette Piard Marine Abad Quentin Thomas Virginie Carmignac Yannis Duffourd Martine Lemesle-Martin Georges Tarris Christel Thauvin-Robinet Pierre Vabres Laurence Faivre Paul Kuentz Source Type: research