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Updated: Feb 12, 2026

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Diverse Genetic Etiologies of Unilateral Polymicrogyria

Abbe Lai1, Jennifer E Neil1, Shyam K Akula1

  • 1Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA.

Annals of Neurology
|February 11, 2026
PubMed
Abstract

Insights

Genetic testing identified causes for unilateral polymicrogyria (uPMG) in over 26% of individuals. Some genetic causes overlap with bilateral PMG, while others are unique to uPMG, warranting further investigation.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Polymicrogyria (PMG) is a common cortical malformation, often classified by its distribution.
  • Unilateral polymicrogyria (uPMG) affects one cerebral hemisphere, distinct from more common bilateral presentations.
  • The genetic basis of uPMG compared to bilateral PMG remains underexplored.

Purpose of the Study:

  • To investigate the genetic etiology of unilateral polymicrogyria (uPMG).
  • To evaluate the diagnostic yield of genetic testing for uPMG.
  • To determine if uPMG shares genetic causes with bilateral PMG or has a distinct genetic profile.

Main Methods:

  • Retrospective analysis of clinical data from 35 individuals with uPMG.
  • Genetic testing was performed on all participants.
  • Data collected from the Brain Development and Genetics Clinic and the Walsh Laboratory at Boston Children's Hospital.

Main Results:

  • A likely genetic cause was identified in 26.7% of unrelated individuals and 10/35 total subjects.
  • Identified recessive causes: ASPM, WDR62, TMEM216.
  • Identified dominant causes: 22q deletion syndrome, DYNC1H1, SCN3A, ACVRL1, ENG.
  • First report of DYNC1H1, TMEM216, and ACVRL1 variants in uPMG.

Conclusions:

  • Genetic causes of uPMG and bilateral PMG can overlap, but some are unique to uPMG.
  • Genetic explanations for uPMG are found at rates comparable to bilateral PMG.
  • Germline genetic testing is recommended for individuals with uPMG.

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