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

doi:10.1007/s00439-002-0709-3

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

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86 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 language	English (US)
Pages (from-to)	422-428
Number of pages	7
Journal	Human Genetics
Volume	110
Issue number	5
DOIs	https://doi.org/10.1007/s00439-002-0709-3
State	Published - May 2002
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics(clinical)
Genetics

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@article{77834a9818044a58a9647cc2cccbddc5,

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

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.",

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

note = "Funding Information: Acknowledgements We sincerely thank J.D. Karkera for assistance with protein prediction algorithms, W.B. Dobyns for reading the brain scans of the patients. R.D.B. is supported by a Cancer Research Fund Fellowship of the Damon Runyon-Walter Winchell Foundation. A.F.S. is a Scholar of the McKnight Endowment Fund for Neuroscience and the Irma T. Hirschl Trust. This work is supported by grants from the NIH (A.F.S.) and by the Division of Intramural Research, NHGRI, NIH (M.M.).",

year = "2002",

month = may,

doi = "10.1007/s00439-002-0709-3",

language = "English (US)",

volume = "110",

pages = "422--428",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Science and Business Media Deutschland GmbH",

number = "5",

}

TY - JOUR

T1 - A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects

AU - De La Cruz, June M.

AU - Bamford, Richard N.

AU - Burdine, Rebecca D.

AU - Roessler, Erich

AU - Barkovich, A. James

AU - Donnai, Dian

AU - Schier, Alexander F.

AU - Muenke, Maximilian

N1 - Funding Information: Acknowledgements We sincerely thank J.D. Karkera for assistance with protein prediction algorithms, W.B. Dobyns for reading the brain scans of the patients. R.D.B. is supported by a Cancer Research Fund Fellowship of the Damon Runyon-Walter Winchell Foundation. A.F.S. is a Scholar of the McKnight Endowment Fund for Neuroscience and the Irma T. Hirschl Trust. This work is supported by grants from the NIH (A.F.S.) and by the Division of Intramural Research, NHGRI, NIH (M.M.).

PY - 2002/5

Y1 - 2002/5

N2 - 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.

AB - 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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U2 - 10.1007/s00439-002-0709-3

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AN - SCOPUS:0036590111

SN - 0340-6717

VL - 110

SP - 422

EP - 428

JO - Human Genetics

JF - Human Genetics

IS - 5

ER -

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

Abstract

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