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ARF1-related disorder: phenotypic and molecular spectrum.

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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • The genetic basis of periventricular nodular heterotopia (PVNH) is not fully understood.
  • Previous studies implicated ARF1 in PVNH in a limited number of individuals.

Purpose of the Study:

  • To comprehensively describe the phenotypic and genotypic spectrum of ARF1-related neurodevelopmental disorder.
  • To expand the understanding of ARF1's role in human development.

Main Methods:

  • Collected detailed phenotypes from an international cohort (n=17) of individuals with ARF1 variants.
  • Utilized the GeneMatcher platform for cohort assembly.
  • Performed structural modeling of missense variants and functional validation.

Main Results:

  • Identified de novo ARF1 variants (missense, frameshift, splice-altering) in 17 unrelated individuals.
  • Observed phenotypes including intellectual disability, microcephaly, seizures, and PVNH.
  • Brain MRI frequently showed neuronal migration disorder abnormalities; microretrognathia and sensory defects were common.

Conclusions:

  • Confirmed ARF1's role in an autosomal dominant neurodevelopmental syndrome.
  • The spectrum includes severe intellectual disability, microcephaly, seizures, and PVNH.
  • The disorder results from impaired neuronal migration.