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

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

Clinical genetics（2024）

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摘要

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.

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