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

David A. Koolen, Jamie M. Kramer, Kornelia Neveling, Willy M. Nillesen, Heather L. Moore-Barton, Frances V. Elmslie, Annick Toutain, Jeanne Amiel, Valérie Malan, Anne Chun Hui Tsai, Sau Wai Cheung, Christian Gilissen, Eugene T.P. Verwiel, Sarah Martens, Ton Feuth, Ernie M.H.F. Bongers, Petra De Vries, Hans Scheffer, Lisenka E.L.M. Vissers, Arjan P.M. De BrouwerHan G. Brunner, Joris A. Veltman, Annette Schenck, Helger G. Yntema, Bert B.A. De Vries

Research output: Contribution to journalArticlepeer-review

172 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)639-641
Number of pages3
JournalNature genetics
Issue number6
StatePublished - Jun 2012
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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