Article
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2021
Zanoni Paolo, Steindl Katharina, Sengupta Deepanwita, Joset Pascal, Bahr Angela, Sticht Heinrich, Lang-Muritano Mariarosaria, van Ravenswaaij-Arts Conny M A, Shinawi Marwan, Andrews Marisa, Attie-Bitach Tania, Maystadt Isabelle, Belnap Newell, Benoit Valerie, Delplancq Geoffroy, de Vries Bert B A, Grotto Sarah, Lacombe Didier, Larson Austin, Mourmans Jeroen, Õunap Katrin, Petrilli Giulia, Pfundt Rolph, Ramsey Keri, Blok Lot Snijders, Tsatsaris Vassilis, Vitobello Antonio, Faivre Laurence, Wheeler Patricia G, Wevers Marijke R, Wojcik Monica, Zweier Markus, Gozani Or, Rauch Anita
Abstract excerpt
PURPOSE: Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf-Hirschhorn syndrome (WHS) phenotype, the clinical spectrum associated with NSD2 pathogenic variants remains poorly understood. METHODS: We collected a comprehensive series of 18 unpublished patients carrying heterozygous missense, elongating, or truncating NSD2 variants; compared their...
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