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Dev Dyn. January 1, 2010; 239 (1): 327-37.

WNT5A mutations in patients with autosomal dominant Robinow syndrome.

Person AD , Beiraghi S , Sieben CM , Hermanson S , Neumann AN , Robu ME , Schleiffarth JR , Billington CJ , van Bokhoven H , Hoogeboom JM , Mazzeu JF , Petryk A , Schimmenti LA , Brunner HG , Ekker SC , Lohr JL .

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.

PubMed ID: 19918918
PMC ID: PMC4059519
Article link: Dev Dyn.
Grant support: T32 AR050938 NIAMS NIH HHS , T32-DE07288-07 NIDCR NIH HHS, Howard Hughes Medical Institute , R01 GM063904-01 NIGMS NIH HHS , R01 GM063904 NIGMS NIH HHS , T32 DE007288 NIDCR NIH HHS

Genes referenced: ror2 wnt5a

External Resources:

Afzal, 2000, Pubmed[+]

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