[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B].

OBJECTIVE: To identify the disease-causing mutation in a Chinese family with brachydactyly type B (BDB). METHODS: Genomic DNA was extracted from peripheral blood samples of family members. Exons 8 and 9 of the ROR2 gene were amplified by polymerase chain reaction (PCR) and sequenced directly. Furthermore, the PCR products showing mutation were cloned into pMD18T vector and the insert fragments were sequenced. RESULTS: A 1398-1399 insA heterozygous mutation was detected in the patient. This mutation had been found in German families with BDB. CONCLUSION: To the authors' knowledge, it is the first report on identification of the ROR2 pathogenic mutation in Chinese patients with BDB.