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Sacral appendage associated with a mutation in FGFR2.

Elizabeth Sweeney, Ian Ellis, Paul May

    Clinical Dysmorphology
    |June 20, 2002
    PubMed
    Summary
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    A baby with craniosynostosis and a sacral appendage was found to have a mutation in the fibroblast growth factor receptor 2 gene (FGFR2). This finding links FGFR gene mutations to sacral appendages, expanding the known spectrum of associated abnormalities.

    Area of Science:

    • Genetics
    • Developmental Biology
    • Medical Science

    Background:

    • Fibroblast growth factor receptors (FGFRs) play crucial roles in embryonic development.
    • Mutations in FGFR genes are associated with a range of congenital anomalies, including craniosynostosis syndromes.
    • The spectrum of abnormalities linked to FGFR mutations is continually being defined.

    Observation:

    • A case report detailing a neonate presenting with both craniosynostosis and a sacral appendage.
    • Genetic analysis revealed a specific mutation, Ser351Cys, in the fibroblast growth factor receptor 2 (FGFR2) gene in this infant.
    • This represents the first documented instance of a sacral appendage in conjunction with a confirmed FGFR gene mutation.

    Findings:

    • Identification of a novel association between FGFR2 gene mutations and the presence of a sacral appendage.

    Related Experiment Videos

  • The Ser351Cys mutation in FGFR2 is implicated in the complex phenotype observed in the infant.
  • This case expands the known clinical manifestations associated with pathogenic FGFR variants.

    • Implications:

    • Suggests a potential role for FGFR signaling pathways in the development of spinal and craniofacial structures.
    • Highlights the importance of genetic screening for FGFR mutations in infants with syndromic craniosynostosis and other congenital anomalies.
    • Contributes to a deeper understanding of genotype-phenotype correlations within the spectrum of FGFR-related disorders.