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- Title
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
- Authors
de la Cruz, June M; Bamford, Richard N; Burdine, Rebecca D; Roessler, Erich; Barkovich, A James; Donnai, Dian; Schier, Alexander F; Muenke, Maximilian
- 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.
- Publication
Human genetics, 2002, Vol 110, Issue 5, p422
- ISSN
0340-6717
- Publication type
Journal Article
- DOI
10.1007/s00439-002-0709-3