TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

doi:10.1093/hmg/ddv618

Article

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

Human molecular genetics - 1 Mar 2016

Ba Wei, Yan Yan, Reijnders Margot R F, Schuurs-Hoeijmakers Janneke H M, Feenstra Ilse, Bongers Ernie M H F, Bosch Daniëlle G M, De Leeuw Nicole, Pfundt Rolph, Gilissen Christian, De Vries Petra F, Veltman Joris A, Hoischen Alexander, Mefford Heather C, Eichler Evan E, Vissers Lisenka E L M, Nadif Kasri Nael, De Vries Bert B A

Abstract excerpt

Recently, we marked TRIO for the first time as a candidate gene for intellectual disability (ID). Across diverse vertebrate species, TRIO is a well-conserved Rho GTPase regulator that is highly expressed in the developing brain. However, little is known about the specific events regulated by TRIO during brain development and its clinical impact in humans when mutated. Routine clinical diagnostic testing...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

Abstract excerpt

Topics

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

Abstract excerpt

Topics

Related research