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

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Short stature and combined immunodeficiency associated with mutations in RGS10.

Ivan K Chinn¹, Zhihui Xie², Eunice C Chan²

¹Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.

Science Signaling

|July 28, 2021

Summary

Rare RGS10 gene variants cause short stature and immunodeficiency by disrupting protein localization and chemokine signaling. This highlights RGS10

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Area of Science:

Genetics
Immunology
Endocrinology

Background:

Regulator of G protein signaling 10 (RGS10) is a GTPase-activating protein crucial for G protein-coupled receptor signaling.
Mutations in RGS10 can lead to complex systemic disorders affecting immunity and growth.

Purpose of the Study:

To investigate the clinical and molecular phenotype of siblings with short stature and immunodeficiency carrying novel RGS10 variants.
To elucidate the functional consequences of RGS10 mutations on protein localization, phosphorylation, and signaling.

Main Methods:

Clinical evaluation of affected siblings.
Molecular analysis of RGS10 variants (c.489_491del:p.E163del and c.G511T:p.A171S).
In vitro assessment of RGS10 variant protein function, including GTPase-activating protein activity, phosphorylation, and subcellular localization.

Main Results:

Siblings presented with short stature, recurrent infections, hypergammaglobulinemia, reduced lymphocyte chemotaxis, and abnormal lymph node architecture.
RGS10 variants (p.E163del and p.A171S) showed intact GTPase-activating protein activity but aberrant PKA-mediated phosphorylation.
Mutant RGS10 proteins exhibited increased cytosolic and cell membrane localization, leading to attenuated chemokine signaling.

Conclusions:

RGS10 is essential for immune competence and hormonal metabolism in humans.
RGS10 mutations causing protein mislocalization disrupt chemokine signaling and contribute to systemic genetic disorders.
Novel RGS10 variants are linked to a distinct phenotype of immunodeficiency and short stature.