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A new mutation in the gene ROR2 causes brachydactyly type B1.

Authors: Huang, D  Jiang, S  Zhang, Y  Liu, X  Zhang, J  He, R 
Citation: Huang D, etal., Gene. 2014 Aug 15;547(1):106-10. doi: 10.1016/j.gene.2014.06.035. Epub 2014 Jun 19.
Pubmed: (View Article at PubMed) PMID:24954533
DOI: Full-text: DOI:10.1016/j.gene.2014.06.035

Brachydactyly type B, an autosomal dominant disorder that is characterized by hypoplasia of the distal phalanges and nails, can be divided into brachydactyly type B1 (BDB1) and brachydactyly type B2 (BDB2). BDB1 is caused by mutations in the receptor tyrosine kinase gene ROR2, which maps to chromosome 9q22, whereas BDB2 is caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Here, we report a three-generation Chinese family with dominant inheritance of the BDB1 limb phenotype. Sequence analysis identified a novel heterozygous base deletion (c.1396-1398delAA) in the gene ROR2 in all affected family members. This new deletion is expected to produce a truncated Ror2 protein with a new polypeptide of 57 amino acids at the C-terminal.

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RGD Object Information
RGD ID: 11535953
Created: 2016-09-23
Species: All species
Last Modified: 2016-09-23
Status: ACTIVE



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