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A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects

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Abstract.

TDGF1 (CRIPTO) is an EGF-CFC family member and an obligate co-receptor involved in NODAL signaling, a developmental program implicated in midline, forebrain, and left-right axis development in model organisms. Previous studies of CFC1 (CRYPTIC), another member of the EGF-CFC family, demonstrated that normal function of this protein is required for proper laterality development in humans. Here we identify a mutation in the conserved CFC domain of TDGF1 in a patient with midline anomalies of the forebrain. The mutant protein is inactive in a zebrafish rescue assay, indicating a role for TDGF1 in human midline and forebrain development.

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Authors and Affiliations

  1. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1852, Building 10, 10C103, Bethesda, MD 20892–1852, USA, USA

    June M. de la Cruz, Richard N. Bamford, Erich Roessler & Maximilian Muenke

  2. Developmental Genetics Program, Skirball Institute of Biomolecular Medicine, Department of Cell Biology, New York University School of Medicine, New York, USA, USA

    Rebecca D. Burdine & Alexander F. Schier

  3. Department of Neuroradiology, University of California San Francisco, California, USA, USA

    James A. Barkovich

  4. Regional Genetic Service, St. Mary's Hospital, Manchester, UK, UK

    Dian Donnai

Authors
  1. June M. de la Cruz
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  2. Richard N. Bamford
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  3. Rebecca D. Burdine
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  4. Erich Roessler
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  5. James A. Barkovich
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  6. Dian Donnai
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  7. Alexander F. Schier
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  8. Maximilian Muenke
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de la Cruz, J.M., Bamford, R.N., Burdine, R.D. et al. A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects . Hum Genet 110, 422–428 (2002). https://doi.org/10.1007/s00439-002-0709-3

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  • DOI: https://doi.org/10.1007/s00439-002-0709-3

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