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AXIN1 mutations in nonsyndromic craniosynostosis.

Andrew T Timberlake1, Kshipra Hemal1, Jonas A Gustafson2

  • 11Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, New York.

Journal of Neurosurgery. Pediatrics
|June 21, 2024
PubMed
Summary

Rare mutations in AXIN1 are linked to nonsyndromic craniosynostosis (CS), a common birth defect. This discovery provides new insights into CS genetics and Wnt signaling pathways.

Keywords:
AXIN1Wnt signalingcraniofacialde novo mutationsnonsyndromic craniosynostosis

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Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatric Medicine

Background:

  • Craniosynostosis (CS) is the most common cranial birth defect, affecting 1 in 2000 live births.
  • While genetic causes for syndromic CS are known, the etiology of most nonsyndromic CS cases remains elusive.

Purpose of the Study:

  • To investigate the genetic underpinnings of nonsyndromic craniosynostosis.
  • To identify novel genetic variants associated with this condition.

Main Methods:

  • Exome or RNA sequencing data from 876 children with nonsyndromic CS were analyzed.
  • GeneMatcher and the Gabriella Miller Kids First genome sequencing project were used to find additional patients with AXIN1 mutations.

Main Results:

  • Eleven patients with nonsyndromic CS and rare, damaging mutations in AXIN1 were identified.
  • AXIN1 mutations were significantly enriched in nonsyndromic CS patients compared to controls (p < 2.3 × 10-6).
  • Three of six mutations in trios were de novo, while three were inherited from unaffected parents.

Conclusions:

  • This study establishes the first phenotype associated with AXIN1 mutations, implicating it in approximately 1% of nonsyndromic CS cases.
  • The findings reinforce the role of Wnt signaling in cranial suture development.
  • These results have implications for genetic testing strategies in families affected by CS.