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A Novel SHOC2 Variant in Rasopathy.

Vickie Hannig1, Myoungkun Jeoung, Eun Ryoung Jang

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|August 20, 2014
PubMed
Summary

A novel SHOC2 mutation causes a Rasopathy, a genetic disorder impacting the ERK1/2 pathway. This finding suggests mild Rasopathy cases may be underdiagnosed, highlighting the importance of genetic testing.

Keywords:
ERK1/2 pathwayRasopathiesSHOC2signaling

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Area of Science:

  • Genetics
  • Molecular Biology
  • Cell Signaling

Background:

  • Rasopathies are a class of genetic disorders stemming from mutations in the Extracellular signal-Regulated Kinases 1 and 2 (ERK1/2) signaling pathway.
  • SHOC2 is a scaffold protein crucial for ERK1/2 pathway regulation.
  • A prior SHOC2 mutation was linked to Noonan-like syndrome.

Observation:

  • A novel SHOC2 mutation (c.519G>A; p.M173I) was identified, causing a Rasopathy with features overlapping Noonan and cardiofaciocutaneous syndromes.
  • The identified SHOC2 variant demonstrated impaired interaction with protein phosphatase 1c (PP1c).
  • This interaction defect resulted in insufficient RAF-1 kinase activation and incomplete rescue of ERK1/2 activity.

Findings:

  • The novel SHOC2 mutation impairs its function as a scaffold protein in the ERK1/2 pathway.
  • Mutant SHOC2 protein shows reduced interaction with PP1c, leading to dysregulated RAF-1 kinase activation.
  • Cells with the SHOC2 variant exhibit insufficient ERK1/2 pathway activity.

Implications:

  • SHOC2 mutations contribute to a spectrum of Rasopathy phenotypes in heterozygous individuals.
  • The study suggests that individuals with milder Rasopathy symptoms might be underdiagnosed.
  • This research underscores the significance of SHOC2 in Rasopathy pathogenesis and diagnosis.