Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome.

Yue Huang,Katheryn Grand,Virginia Kimonis,Merlin G Butler, Suparna Jain,Alden Yen-Wen Huang,Julian A Martinez-Agosto,Stanley F Nelson,Pedro A Sanchez-Lara

Journal of medical genetics（2022）

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摘要

This is the first report that provides evidence of a de novo point mutation of paternal origin in as a new disease-causing mechanism for PWS. This finding suggests that gene sequencing should be considered as part of the diagnostic workup in patients with clinical suspicion of PWS.

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关键词

imprinting,point mutation

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