Abstract
Mutations in ROR2, encoding the receptor tyrosine kinase-like orphan receptor 2, cause two distinct skeletal diseases: autosomal dominant brachydactyly type B1 (BDB1) and autosomal recessive Robinow syndrome. In a large Chinese family with a limb phenotype, consisting of atypical BDB1 and cutaneous syndactyly of varying degrees, we performed a two-point linkage analysis using microsatellite markers on 2q33–q37 and 9q22.31, and found a significant linkage to the ROR2 locus. We identified a novel single-base deletion in ROR2, c.2243delC (p.W749fsX24), and confirmed its segregation with the limb phenotype in the family. This deletion is predicted to produce a truncated ROR2 protein with an additional C-terminal polypeptide of 24 amino-acid residues. To the best of our knowledge, the deletion represents the second ROR2 mutation associated with a BDB1-syndactyly phenotype.
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Acknowledgements
We would like to thank all the family members for their participation in this study. This work was mainly supported by the National Natural Science Foundation of China (30730097 and 30721063) and the Ministry of Science and Technology of China (2005DKA21302) (to XZ). XZ is a Chang Jiang Scholar of Genetic Medicine supported by the Ministry of Education of China.
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Lv, D., Luo, Y., Yang, W. et al. A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. J Hum Genet 54, 422–425 (2009). https://doi.org/10.1038/jhg.2009.48
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DOI: https://doi.org/10.1038/jhg.2009.48
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