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WNT5A mutations in patients with autosomal dominant Robinow syndrome.
Dev Dyn. 2010 Jan; 239(1):327-37.DD

Abstract

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.

Authors+Show Affiliations

Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19918918

Citation

Person, Anthony D., et al. "WNT5A Mutations in Patients With Autosomal Dominant Robinow Syndrome." Developmental Dynamics : an Official Publication of the American Association of Anatomists, vol. 239, no. 1, 2010, pp. 327-37.
Person AD, Beiraghi S, Sieben CM, et al. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn. 2010;239(1):327-37.
Person, A. D., Beiraghi, S., Sieben, C. M., Hermanson, S., Neumann, A. N., Robu, M. E., Schleiffarth, J. R., Billington, C. J., van Bokhoven, H., Hoogeboom, J. M., Mazzeu, J. F., Petryk, A., Schimmenti, L. A., Brunner, H. G., Ekker, S. C., & Lohr, J. L. (2010). WNT5A mutations in patients with autosomal dominant Robinow syndrome. Developmental Dynamics : an Official Publication of the American Association of Anatomists, 239(1), 327-37. https://doi.org/10.1002/dvdy.22156
Person AD, et al. WNT5A Mutations in Patients With Autosomal Dominant Robinow Syndrome. Dev Dyn. 2010;239(1):327-37. PubMed PMID: 19918918.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - WNT5A mutations in patients with autosomal dominant Robinow syndrome. AU - Person,Anthony D, AU - Beiraghi,Soraya, AU - Sieben,Christine M, AU - Hermanson,Spencer, AU - Neumann,Ann N, AU - Robu,Mara E, AU - Schleiffarth,J Robert, AU - Billington,Charles J,Jr AU - van Bokhoven,Hans, AU - Hoogeboom,Jeannette M, AU - Mazzeu,Juliana F, AU - Petryk,Anna, AU - Schimmenti,Lisa A, AU - Brunner,Han G, AU - Ekker,Stephen C, AU - Lohr,Jamie L, PY - 2009/11/18/entrez PY - 2009/11/18/pubmed PY - 2010/4/3/medline SP - 327 EP - 37 JF - Developmental dynamics : an official publication of the American Association of Anatomists JO - Dev Dyn VL - 239 IS - 1 N2 - 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. SN - 1097-0177 UR - https://www.unboundmedicine.com/medline/citation/19918918/WNT5A_mutations_in_patients_with_autosomal_dominant_Robinow_syndrome_ L2 - https://doi.org/10.1002/dvdy.22156 DB - PRIME DP - Unbound Medicine ER -