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

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Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Clinical Genetics ( IF 3.5 ) Pub Date : 2024-02-20 , DOI: 10.1111/cge.14511
Camille Engel _{1,

2} , Martin Chevarin _{2,

3} , Juliette Piard _{1,

2} , Marine Abad ₄ , Quentin Thomas _{2,

5} , Virginie Carmignac ₂ , Yannis Duffourd _{2,

3} , Martine Lemesle‐Martin ₅ , Georges Tarris ₅ , Christel Thauvin‐Robinet _{2,

3,

6} , Pierre Vabres _{2,

7} , Laurence Faivre _{2,

6} , Paul Kuentz _{2,

8}

Affiliation

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.

中文翻译：

伴有神经发育异常的 Ito 合子后 MTOR 相关黑色素减少症患者的等位基因异质性

一例马赛克MTOR相关的半侧巨脑畸形和 Ito 黑变症患者，33 岁时死亡，可能是因癫痫猝死。死后对不同组织中变异等位基因分数（VAF）的评估显示出与临床特征不相关的高度变异性，代表了迄今为止对不同组织中 VAF 的最详细评估。

更新日期：2024-02-20

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