Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

作者：Koolen David A; Kramer Jamie M; Neveling Kornelia; Nillesen Willy M; Moore Barton Heather L; Elmslie Frances V; Toutain Annick; Amiel Jeanne; Malan Valerie; 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^*

来源：Nature Genetics, 2012, 44(6): 639-641.

DOI：10.1038/ng.2262

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 lines derived from affected individuals and the presence of learning deficits in Drosophila melanogaster mutants suggest a role for KANSL1 in neuronal processes.

• 出版日期2012-6