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ROR2, Brachydactyly Type B, and Recessive Robinow Syndrome 

ROR2, Brachydactyly Type B, and Recessive Robinow Syndrome
Chapter:
ROR2, Brachydactyly Type B, and Recessive Robinow Syndrome
Author(s):

Andrew O. M. Wilkie

DOI:
10.1093/med/9780199934522.003.0039
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date: 27 February 2021

Mutations of the gene ROR2 (receptor tyrosine kinase-like orphan receptor 1), which maps to 9q22 and encodes a receptor tyrosine kinase (RTK) that participates in Wingless-type (Wnt) signaling, have been identified in two distinct skeletal disorders, dominantly inherited brachydactyly type B (BDB) (OMIM 113000) and recessive Robinow syndrome (RRS). This demonstrates that ROR2 is required for the development of multiple organs, most prominently bone, but including, in the case of RRS, the face, heart, and urogenital system. Genetic evidence indicates that BDB mutations act in dominant positive or negative manner, whereas abnormal intracellular processing of RRS mutations has been demonstrated indicating recessive loss of protein function. A single unlinked paralogue Ror1/ROR1 is present in mice and humans, but mutations of ROR1 have not yet been identified in any human disorder. Mutations have been identified in the WNT5A gene in affected members of a family with autosomal dominant Robinow syndrome supporting a role for ROR2 in Wnt signaling

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