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

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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Franziska Langhammer¹, Reza Maroofian², Rueda Badar¹

¹Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.

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

|May 11, 2023

Summary

Pathogenic variants in RHOBTB2 cause neurodevelopmental disorders. Missense variants in the BTB domain lead to severe encephalopathy, while GTPase domain variants show variable phenotypes. Complete loss of RHOBTB2 also causes disease.

Keywords:

Developmental and epileptic encephalopathy Intellectual disability Neurodevelopmental disorder RHOBTB2 Seizures

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Area of Science:

Genetics
Neuroscience
Molecular Biology

Background:

RHOBTB2 gene variants are associated with neurodevelopmental disorders.
Missense variants in the BTB domain of RHOBTB2 cause severe developmental and epileptic encephalopathy.

Purpose of the Study:

To investigate the clinical and molecular spectrum of RHOBTB2-related neurodevelopmental disorders.
To identify genotype-phenotype correlations for RHOBTB2 variants.
To explore the functional consequences of RHOBTB2 missense variants.

Main Methods:

International collaboration to assemble individuals with pathogenic RHOBTB2 variants.
Western blotting to assess the in vitro consequences of missense variants.
Analysis of de novo heterozygous and biallelic variants.

Main Results:

De novo heterozygous missense variants in the BTB domain cause severe developmental and epileptic encephalopathy.
De novo missense variants in the GTPase domain result in variable neurodevelopmental phenotypes.
GTPase domain variants do not impair RHOBTB2 proteasomal degradation in vitro.
Biallelic splice-site and truncating variants lead to variable neurodevelopmental phenotypes, indicating loss-of-function pathogenicity.

Conclusions:

RHOBTB2 variants contribute to a spectrum of neurodevelopmental disorders.
Genotype-phenotype correlations are identified based on variant location and functional consequences.
Both autosomal dominant and recessive inheritance patterns are implicated in RHOBTB2-related phenotypes.