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

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

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, representin...

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Veröffentlicht in:Clinical genetics 2024-05, Vol.105 (5), p.581-583
Hauptverfasser: Engel, Camille, Chevarin, Martin, Piard, Juliette, Abad, Marine, Thomas, Quentin, Carmignac, Virginie, Duffourd, Yannis, Lemesle-Martin, Martine, Tarris, Georges, Thauvin-Robinet, Christel, Vabres, Pierre, Faivre, Laurence, Kuentz, Paul
Format: Artikel
Sprache:eng
Schlagworte:
Alleles
Autopsy
Epilepsy
Humans
Hypopigmentation - genetics
Neurodevelopmental disorders
TOR protein
TOR Serine-Threonine Kinases
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Zusammenfassung: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.14511