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Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype

Gregory Costain1,2, Andrea Shugar2,3, Pradeep Krishnan4

  • 1Medical Genetics Residency Training Program, University of Toronto, Ontario, Canada.

American Journal of Medical Genetics. Part A
|February 18, 2017
PubMed

Insights

New research identifies a PRUNE1 gene mutation causing brain malformations in a young boy. This finding expands understanding of PRUNE1-related syndromes and aids in diagnosing rare neurological disorders.

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • The PRUNE1 gene, encoding a DHH superfamily phosphoesterase, is crucial for human fetal brain development and cell migration.
  • Mutations in PRUNE1 have been previously linked to brain malformations.

Observation:

  • A 2-year-old male presented with complex neurological issues and brain MRI abnormalities.
  • Re-analysis of whole-exome sequencing data identified a homozygous likely pathogenic PRUNE1 variant (c.521-2A>G).

Findings:

  • This case further establishes a novel PRUNE1-related syndrome.
  • The identified variant contributes to the spectrum of PRUNE1-associated neurodevelopmental disorders.

Implications:

  • Highlights the significance of periodic re-annotation of genomic data for undiagnosed cases.
  • Advances the diagnostic framework for congenital brain malformations and neurodevelopmental disorders.

Keywords:
CreeDRES17HTCD37OjibwePRUNEPRUNE1brain structurefounder effectinfantile spasmswhole-exome sequencing

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