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

June M. De La Cruz, Richard N. Bamford, Rebecca D. Burdine, Erich Roessler, A. James Barkovich, Dian Donnai, Alexander F. Schier, Maximilian Muenke

Research output: Contribution to journalArticle

82 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)422-428
Number of pages7
JournalHuman Genetics
Volume110
Issue number5
DOIs
StatePublished - May 1 2002
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    De La Cruz, J. M., Bamford, R. N., Burdine, R. D., Roessler, E., Barkovich, A. J., Donnai, D., Schier, A. F., & Muenke, M. (2002). A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Human Genetics, 110(5), 422-428. https://doi.org/10.1007/s00439-002-0709-3