Article
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Nature genetics - 29 Apr 2012
Koolen David A, Kramer Jamie M, Neveling Kornelia, Nillesen Willy M, Moore-Barton Heather L, Elmslie Frances V, Toutain Annick, Amiel Jeanne, Malan Valérie, Tsai Anne Chun-Hui, Cheung Sau Wai, Gilissen Christian, Verwiel Eugene T P, Martens Sarah, Feuth Ton, Bongers Ernie M H F, de Vries Petra, Scheffer Hans, Vissers Lisenka E L M, de Brouwer Arjan P M, Brunner Han G, Veltman Joris A, Schenck Annette, Yntema Helger G, de Vries Bert B A
Abstract excerpt
We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. The KANSL1 protein is an evolutionarily conserved regulator of the chromatin modifier KAT8, which influences gene expression through histone H4 lysine 16 (H4K16) acetylation. RNA sequencing studies in cell...
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