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KANSL1

Welcome

This website provides information on individuals with Koolen-de Vries syndrome (KdVS, OMIM #610443), including clinical data, molecular data, management and research options.

The Koolen-de Vries syndrome, also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder. The syndrome is either caused by a microdeletion in chromosomal region 17q21.31 or by a mutation in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene, involved in global transcription by histone modification.

The syndrome is a multisystem disorder characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system. It is of note that not all features are present in all individuals with KdVS.

This website was created to share and collect information about the clinical spectrum, management options and research projects in order to gather more knowledge and provide better treatment of individuals with KdVS.

David A. Koolen Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands David.Koolen@radboudumc.nl

Bert A. de Vries Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands Bert.deVries@radboudumc.nl

Evan E. Eichler Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195 and Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, eee@gs.washington.edu

To share and collect information about clinic management and research projects.

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