Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome.
Yue HuangKatheryn GrandVirginia KimonisMerlin G ButlerSuparna JainAlden Yen-Wen HuangJulian A MartinezStanley F NelsonPedro A Sanchez-LaraPublished in: Journal of medical genetics (2021)
This is the first report that provides evidence of a de novo point mutation of paternal origin in SNRPN 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.