| WNT5A mutations in patients with autosomal dominant Robinow syndrome. | |
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MedLine Citation:
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PMID: 19918918 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is characterized by short stature, limb shortening, genital hypoplasia, and craniofacial abnormalities. The etiology of dominant Robinow syndrome is unknown; however, the phenotypically more severe autosomal recessive form of Robinow syndrome has been associated with mutations in the orphan tyrosine kinase receptor, ROR2, which has recently been identified as a putative WNT5A receptor. Here, we show that two different missense mutations in WNT5A, which result in amino acid substitutions of highly conserved cysteines, are associated with autosomal dominant Robinow syndrome. One mutation has been found in all living affected members of the original family described by Meinhard Robinow and another in a second unrelated patient. These missense mutations result in decreased WNT5A activity in functional assays of zebrafish and Xenopus development. This work suggests that a WNT5A/ROR2 signal transduction pathway is important in human craniofacial and skeletal development and that proper formation and growth of these structures is sensitive to variations in WNT5A function. |
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Authors:
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Anthony D Person; Soraya Beiraghi; Christine M Sieben; Spencer Hermanson; Ann N Neumann; Mara E Robu; J Robert Schleiffarth; Charles J Billington; Hans van Bokhoven; Jeannette M Hoogeboom; Juliana F Mazzeu; Anna Petryk; Lisa A Schimmenti; Han G Brunner; Stephen C Ekker; Jamie L Lohr |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Developmental dynamics : an official publication of the American Association of Anatomists Volume: 239 ISSN: 1097-0177 ISO Abbreviation: Dev. Dyn. Publication Date: 2010 Jan |
Date Detail:
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Created Date: 2009-12-24 Completed Date: 2010-04-02 Revised Date: 2011-12-22 |
Medline Journal Info:
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Nlm Unique ID: 9201927 Medline TA: Dev Dyn Country: United States |
Other Details:
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Languages: eng Pagination: 327-37 Citation Subset: IM |
Copyright Information:
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(c) 2009 Wiley-Liss, Inc. |
Affiliation:
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Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Amino Acid Sequence Animals Bone Diseases, Developmental / genetics* Chromosome Mapping Crosses, Genetic DNA Primers / genetics Embryonic Development / genetics* Genes, Dominant / genetics Humans In Situ Hybridization Mice Molecular Sequence Data Mutation, Missense / genetics* Proto-Oncogene Proteins / genetics*, metabolism Receptor Tyrosine Kinase-like Orphan Receptors / genetics, metabolism Signal Transduction / genetics* Syndrome Wnt Proteins / genetics*, metabolism Xenopus Zebrafish |
| Grant Support | |
ID/Acronym/Agency:
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R01 GM063904-01/GM/NIGMS NIH HHS; T32 AR050938/AR/NIAMS NIH HHS; T32-DE07288-07/DE/NIDCR NIH HHS; //Howard Hughes Medical Institute |
| Chemical | |
Reg. No./Substance:
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0/DNA Primers; 0/Proto-Oncogene Proteins; 0/ROR2 protein, human; 0/WNT5A protein, human; 0/Wnt Proteins; EC 2.7.10.1/Receptor Tyrosine Kinase-like Orphan Receptors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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