Health Conditions Related to Genetic Changes
Robinow syndrome
At least six mutations in the WNT5A gene have been found to cause the autosomal dominant form of Robinow syndrome, a condition that affects the development of many parts of the body, particularly the bones. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. Most of the known mutations change a single protein building block (amino acid) in the WNT5A protein. These mutations alter the structure of the protein, which likely affects its interactions with other proteins involved in Wnt signaling. The resulting impairment of Wnt signaling pathways disrupts the development of many organs and tissues, leading to the features of Robinow syndrome.
More About This Health ConditionOther Names for This Gene
- hWNT5A
- wingless-type MMTV integration site family member 5A
- wingless-type MMTV integration site family, member 5A
- WNT-5A protein
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Kikuchi A, Yamamoto H, Sato A, Matsumoto S. Wnt5a: its signalling, functions and implication in diseases. Acta Physiol (Oxf). 2012 Jan;204(1):17-33. doi: 10.1111/j.1748-1716.2011.02294.x. Epub 2011 Apr 22. Citation on PubMed
- Mikels AJ, Nusse R. Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context. PLoS Biol. 2006 Apr;4(4):e115. doi: 10.1371/journal.pbio.0040115. Epub 2006 Apr 4. Citation on PubMed or Free article on PubMed Central
- Nishita M, Enomoto M, Yamagata K, Minami Y. Cell/tissue-tropic functions of Wnt5a signaling in normal and cancer cells. Trends Cell Biol. 2010 Jun;20(6):346-54. doi: 10.1016/j.tcb.2010.03.001. Epub 2010 Mar 30. Citation on PubMed
- Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ Jr, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn. 2010 Jan;239(1):327-37. doi: 10.1002/dvdy.22156. Citation on PubMed or Free article on PubMed Central
- Roifman M, Marcelis CL, Paton T, Marshall C, Silver R, Lohr JL, Yntema HG, Venselaar H, Kayserili H, van Bon B, Seaward G; FORGE Canada Consortium; Brunner HG, Chitayat D. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. 2015;87(1):34-41. doi: 10.1111/cge.12401. Epub 2014 May 24. Citation on PubMed
- White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Brunner HG, Sutton VR, Lupski JR, Carvalho CMB. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21. Citation on PubMed
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