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Summary

Genetic variants in the RICTOR gene are linked to intellectual disability and developmental delay in children. These RICTOR gene mutations can cause a range of developmental and congenital issues, impacting brain development.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • RICTOR is a crucial component of the mTORC2 complex, regulating cell growth, proliferation, and survival.
  • RICTOR is highly expressed in neurons and essential for normal brain development.

Purpose of the Study:

  • To investigate the role of RICTOR gene variants in patients with intellectual disability and developmental delay.
  • To characterize the phenotypic spectrum associated with RICTOR gene mutations.

Main Methods:

  • Genetic analysis of eight unrelated patients with intellectual disability/developmental delay.
  • Identification of de novo or heterozygous RICTOR variants, including missense, loss-of-function, and deletion.
  • Functional studies on patient-derived fibroblasts and mouse embryonic fibroblasts (MEFs).

Main Results:

  • Eight patients presented with diverse phenotypes, including intellectual disability, developmental delay, growth failure, seizures, and congenital malformations.
  • Identified various RICTOR variants (missense, loss-of-function, deletion) in affected individuals.
  • Demonstrated mTORC2 pathway hyperactivation in fibroblasts with a missense RICTOR variant, suggesting a gain-of-function mechanism.

Conclusions:

  • RICTOR gene variants are associated with a spectrum of neurodevelopmental disorders.
  • Gain-of-function mechanisms may contribute to the pathogenesis of RICTOR-related disorders.
  • Further research into RICTOR's role in neuronal development is warranted.