Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the disease-causing mutation in a Chinese family with brachydactyly type B (BDB).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>A 1398-1399 insA heterozygous mutation was detected in the patient. This mutation had been found in German families with BDB.</p><p><b>CONCLUSION</b>To the authors' knowledge, it is the first report on identification of the ROR2 pathogenic mutation in Chinese patients with BDB.</p>