Koolen-De Vries syndrome (OMIM 610443), also known as 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterized by developmental delay, intellectual disability, hypotonia, and characteristic facial dysmorphism that is caused either by a truncating variant in the KANSL1 gene or a 17q21.31 microdeletion encompassing the KANSL1 gene. Koolen et al., 2016 described a novel cohort of 45 individuals with Koolen-De Vries syndrome and observed behavioral problems, including autism or autistic traits, in 57% of cases. A de novo missense variant in the KANSL1 gene was also identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).
Molecular Function
This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
