A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects |
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| Authors: | de la Cruz June M Bamford Richard N Burdine Rebecca D Roessler Erich Barkovich A James Donnai Dian Schier Alexander F Muenke Maximilian |
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| Affiliation: | Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1852, Building 10 Room 10C103, Bethesda, MD 20892-1852, USA. |
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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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