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Identification of a major gene involved in Koolen-de-Vries syndrome

Brain regions altered in mouse models of Koolen de Vries syndrome.

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.

Arbogast T(1)(2)(3)(4), Iacono G(5), Chevalier C(1)(2)(3)(4), Afinowi NO(6), Houbaert X(7), van Eede MC(8), Laliberte C(8), Birling MC(9), Linda K(10), Meziane H(9), Selloum M(9), Sorg T(9), Nadif Kasri N(10), Koolen DA(10), Stunnenberg HG(5), Henkelman RM(8), Kopanitsa M(6), Humeau Y(7), De Vries BBA(10), Herault Y(1)(2)(3)(4)(9).

PLoS Genet July 13, 2017

July 13, 2017

The Koolen-de-Vries syndrome corresponds to the deletion of 17q21.31 chromosomal region and is manifested by intellectual disability, friendly behavior and various malformations. Discovered in 2008, this rare disease remains unexplained at the genetic and molecular level. By studying the clinical and biological signs of the disease in humans, Yann Hérault's team at the IGBMC, in collaboration with Bert De Vries and David Koolen at the Institute of Brain, Knowledge and Behavior in the Countries - Low, demonstrated the major involvement of the Kansl1 gene, coding for a chromatin remodeling factor present in the region. This work is published on 13 July 2017 in the journal Plos Genetics.

Patients with this rare genetic disease have a characteristic facial dimorphism as well as clinical signs including mental retardation, friendly behavior, muscular weakness and several brain anomalies. This syndrome is caused by the loss of a chromosomal region called 17q21.31. The deletion of this dynamic region of the genome affects several genes, including the Kansl1 gene.


To better understand the mechanisms underlying this syndrome, the team of Yann Hérault compared physiopathological disorders in three mouse models following the deletion of chromosome region 17q23.31, its duplication and mutation of the Kansl1 gene. In the case of the deletion, and to a lesser degree in the duplication, of the 17q23.31 region, the researchers observed various symptoms including facial dimorphism, malformed brain, reduced cognitive and motor abilities, and an enhanced social interaction. On the other hand, in the mouse carrying the mutated Kansl1 gene, scientists found the same symptoms, except for the behavioral aspect.


These results demonstrate the implication of the Kansl1 gene in the clinical manifestations of Kool-de-Vries syndrome in mice and provide a better understanding of the biological processes altered by these mutations.


If Kansl1 appears as a major gene associated with this syndrome, the difference in behavior between mouse models affected by deletion or duplication of the 17q21.21 chromosomal region and mouse models carrying the Kansl1 mutant gene suggests role of other genes affected by the 17q23.31 chromosomal region deletion.


This study was funded by the European Community funds at Through the GENCODYS program (FP6) coordinated by Hans van Bokhoven

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