A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet

• Main Authors: Kondoh S., Sugawara H., Harada N., Matsumoto N., Ohashi H., Sato M., Kantaputra P.N., Ogino T., Tomita H., Ohta T., Kishino T., Fukushima Y., Niikawa N., Yoshiura K.-I.
• Format: Article
• Language: English
• Published: 2014
• Online Access: http://www.scopus.com/inward/record.url?eid=2-s2.0-0036221483&partnerID=40&md5=07783a5b5cfbb32ab5e2e5a5bc4c7db2; http://cmuir.cmu.ac.th/handle/6653943832/1038
• Institution: Chiang Mai University

Mirror-image polydactyly of hands and feet (MIP) is a very rare congenital anomaly characterized by mirror-image duplication of digits. To isolate the gene responsible for MIP, we performed translocation breakpoint cloning from an MIP patient with t(2;14)(p23.3;q13). We isolated a good candidate gen...