Article
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
PLoS genetics - 1 Oct 2017
Koemans Tom S, Kleefstra Tjitske, Chubak Melissa C, Stone Max H, Reijnders Margot R F, de Munnik Sonja, Willemsen Marjolein H, Fenckova Michaela, Stumpel Connie T R M, Bok Levinus A, Sifuentes Saenz Margarita, Byerly Kyna A, Baughn Linda B, Stegmann Alexander P A, Pfundt Rolph, Zhou Huiqing, van Bokhoven Hans, Schenck Annette, Kramer Jamie M
Abstract excerpt
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical features. In addition to EHMT1 mutations, de novo variants were reported in four additional genes (MBD5, SMARCB1, NR1I3, and KMT2C), in single individuals with clinical...
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