Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.

Celine De Graer,Martina Marangoni, Stephanie Romnée,Mélanie Delaunoy,Siham Zaytouni, Nicky D'Haene,Julie Désir,Catherine Donner

European Journal of Medical Genetics（2020）

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摘要

PIK3CA-Related Overgrowth Spectrum (PROS) encompass a group of disorders which are mainly characterized by segmental overgrowth of several tissues as well as venous and lymphatic malformations. It is caused by heterozygous, usually somatic mosaic, pathogenic variants in the PIK3CA gene. However, some patients presenting mainly isolated megalencephaly or “Cowden-like” features have been described harboring constitutional mutations of PIK3CA.

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关键词

PIK3CA-Related overgrowth spectrum,De novo constitutional PIK3CA mutation,Diaphragmatic eventration,Small bowel duplication

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