Article
Short stature and combined immunodeficiency associated with mutations in RGS10.
Science signaling - 27 Jul 2021
Chinn Ivan K, Xie Zhihui, Chan Eunice C, Nagata Bianca M, Koval Alexey, Chen Wei-Sheng, Zhang Fan, Ganesan Sundar, Hong Diana N, Suzuki Motoshi, Nardone Glenn, Moore Ian N, Katanaev Vladimir L, Balazs Andrea E, Liu Chengyu, Lupski James R, Orange Jordan S, Druey Kirk M
Abstract excerpt
We report the clinical and molecular phenotype of three siblings from one family, who presented with short stature and immunodeficiency and carried uncharacterized variants in RGS10 (c.489_491del:p.E163del and c.G511T:p.A171S). This gene encodes regulator of G protein signaling 10 (RGS10), a member of a large family of GTPase-activating proteins (GAPs) that targets heterotrimeric G proteins to constrain the...
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