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Truncating mutations in FOXC2 cause multiple lymphedema syndromes.

D N Finegold1, M A Kimak, E C Lawrence

  • 1Department of Human Genetics, Graduate School of Public Health, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA. dnf@mars.upmc.edu

Human Molecular Genetics
|May 24, 2001
PubMed
Summary

Mutations in the FOXC2 gene cause hereditary lymphedema, including lymphedema-distichiasis syndrome. Phenotypic classification doesn't always align with genetic causes in these lymphatic disorders.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • Hereditary lymphedemas are lymphatic developmental disorders causing limb swelling due to impaired lymphatic flow.
  • Lymphedema-distichiasis syndrome is linked to mutations in the forkhead transcription factor FOXC2.
  • Understanding the genetic basis of lymphedema is crucial for diagnosis and treatment.

Purpose of the Study:

  • To investigate the role of FOXC2 mutations in hereditary lymphedema.
  • To identify specific mutations in the FOXC2 gene within lymphedema families.
  • To correlate FOXC2 mutations with observed clinical phenotypes.

Main Methods:

  • Sequencing of the FOXC2 gene in 86 families affected by lymphedema.
  • Analysis of identified mutations for predicted impact on FOXC2 protein function.

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  • Comparison of observed phenotypes with known lymphedema classifications.

    • Main Results:

    • Eleven families harbored FOXC2 mutations predicted to impair DNA binding or transcription activation.
    • Significant phenotypic heterogeneity was observed among families with FOXC2 mutations.
    • Observed phenotypes overlapped with four distinct, phenotypically defined lymphedema syndromes.
    • FOXC2 mutations were identified as a primary cause of lymphedema-distichiasis and other lymphedema types.

    Conclusions:

    • FOXC2 is a key gene in the etiology of lymphedema-distichiasis syndrome and other hereditary lymphedemas.
    • The phenotypic classification of autosomal dominant lymphedema is not a reliable indicator of underlying genetic causes.
    • Genetic analysis, particularly of FOXC2, is essential for accurate diagnosis of hereditary lymphedema.