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Updated: Sep 11, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Published on: August 20, 2019

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Amber S E van Oirsouw¹, Pavla Nedbalova², Miroslava Hancarova³

¹Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|August 17, 2025

Summary

Exportin 1 (XPO1) is identified as a novel gene causing a dominant monogenic neurodevelopmental disorder. This study highlights XPO1's crucial role in human development and learning.

Keywords:

Dominant inheritance Habituation Mendelian disorders Monogenic NDD XPO1

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Area of Science:

Genetics
Neuroscience
Developmental Biology

Background:

Exportin 1 (XPO1) is essential for nucleo-cytoplasmic transport and mitosis.
XPO1 gene deletions are observed in 2p15p16.1 microdeletion syndrome.
No monogenic disorder linked to XPO1 had been previously described.

Purpose of the Study:

To investigate the role of XPO1 in monogenic disorders.
To characterize the phenotype associated with de novo XPO1 variants.
To explore XPO1 function in development and learning.

Main Methods:

Collected clinical data from 22 individuals with de novo XPO1 variants.
Utilized Drosophila melanogaster as a model organism to study XPO1 function.
Performed ubiquitous and neuron-specific knockdown experiments in Drosophila.

Main Results:

Identified an overlapping phenotype in individuals with XPO1 variants, consistent with a neurodevelopmental disorder (NDD).
Demonstrated that XPO1 is critical for development in Drosophila.
Showed that knockdown of XPO1 in GABAergic neurons impairs habituation learning in flies.

Conclusions:

XPO1 is established as a novel gene responsible for a dominant monogenic NDD.
XPO1 plays a fundamental role in neurodevelopment and learning processes.