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A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria

Tommi Salokivi1, Riitta Parkkola2, Yasmin Rajendran3

  • 1Department of Disability Services, The Wellbeing Services County of Southwest Finland, Paimio, Finland.

American Journal of Medical Genetics. Part A
|November 17, 2023
PubMed

Insights

Bilateral perisylvian polymicrogyria (BPP) is a brain malformation. A novel CYFIP2 gene variant was identified as a cause, expanding the genetic understanding of BPP.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Bilateral perisylvian polymicrogyria (BPP) is a cortical malformation linked to genetic factors.
  • Intellectual disability and epilepsy are common BPP manifestations.
  • Cytoplasmic FMRP-interacting protein 2 (CYFIP2) variants are associated with brain abnormalities.

Observation:

  • A case of a girl with multiple disabilities and BPP is presented.
  • The patient carried a novel, heterozygous, likely pathogenic variant in the CYFIP2 gene (c.1651G>C: p.(Val551Leu)).

Findings:

  • This case links a specific CYFIP2 variant to BPP.
  • The identified variant expands the known genetic causes of BPP.

Implications:

  • This finding broadens the genetic spectrum associated with BPP.
  • Understanding CYFIP2's role in BPP can inform future diagnostics and research.
  • Further investigation into CYFIP2's function in cortical development is warranted.

Keywords:
CYFIP2intellectual disabilitypolymicrogyria

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