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FGFR1 Tyrosine Kinase Domain Variant p.Val561Met in Caudal Dysraphism: A Case Report

Himanshu Goel1,2, Victoria Yachmenikova3, Tanya Mckenny3

  • 1Hunter Genetics, Waratah, New South Wales, Australia.

Birth Defects Research
|November 17, 2025
PubMed
Summary

A novel FGFR1 gene variant was identified in a fetus with severe spina bifida, suggesting a potential role for FGFR1 in neural tube defects. Further research is needed to confirm this link in larger patient groups.

Keywords:
FGFR1gain of functionneural tube defectpenetrancevariability

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