Open Access5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation
Author(s) -
Fabiola QuinteroRivera,
Celeste Eno,
Christine Sutanto,
Kelly L. Jones,
Małgorzata J.M. Nowaczyk,
Derek Wong,
Dawn Earl,
Ghayda Mirzaa,
Anita E. Beck,
Julian A. MartinezAgosto
Publication year - 2021
Publication title -
human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.351
H-Index - 137
eISSN - 1432-1203
pISSN - 0340-6717
DOI - 10.1007/s00439-020-02240-5
Subject(s) - phenotype , biology , pi3k/akt/mtor pathway , histone methyltransferase , undergrowth , genetics , cancer research , epigenetics , microbiology and biotechnology , signal transduction , gene , ecology
Nuclear receptor binding SET domain protein 1, NSD1, encodes a histone methyltransferase H3K36. NSD1 is responsible for the phenotype of the reciprocal 5q35.2q35.3 microdeletion-microduplication syndromes. We expand the phenotype and demonstrate the functional role of NSD1 in microduplication 5q35 syndrome.