PUBLICATION

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

Authors
de la Cruz, J.M., Bamford, R.N., Burdine, R.D., Roessler, E., Barkovich, A.J., Donnai, D., Schier, A.F., and Muenke, M.
ID
ZDB-PUB-020701-10
Date
2002
Source
Human genetics   110(5): 422-428 (Journal)
Registered Authors
Burdine, Rebecca, Schier, Alexander
Keywords
none
MeSH Terms
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Epidermal Growth Factor*
  • Mutation/genetics*
  • Amino Acid Motifs
  • Transcription Factors*
  • Zebrafish Proteins*
  • Zebrafish/embryology
  • Zebrafish/genetics
  • Holoprosencephaly/genetics*
  • Child, Preschool
  • Protein Structure, Tertiary
  • Intercellular Signaling Peptides and Proteins
  • Animals
  • Sequence Homology, Amino Acid
  • Amino Acid Sequence
  • Humans
  • Prosencephalon/abnormalities*
  • Neoplasm Proteins/chemistry*
  • Neoplasm Proteins/genetics*
  • GPI-Linked Proteins
  • Homeodomain Proteins*
  • Female
  • Male
  • Membrane Glycoproteins*
(all 25)
PubMed
12073012 Full text @ Hum. Genet.
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.
Genes / Markers
Figures
No images available
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping
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Citation
de la Cruz, J.M., Bamford, R.N., Burdine, R.D., Roessler, E., Barkovich, A.J., Donnai, D., Schier, A.F., and 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.