シモジマ ケイコ   Shimojima Keiko
  下島 圭子
   所属   医学部 医学科(東京女子医科大学病院)
   職種   助教
論文種別 原著
言語種別 英語
査読の有無 査読なし
表題 Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay.
掲載誌名 正式名:American Journal of Medical Genetics
巻・号・頁 155(12),pp.2997-3001
著者・共著者 Nobuhiko Okamoto, Daisuke Tamura, Gen Nishimura, Keiko Shimojima, Toshiyuki Yamamoto
発行年月 2011/12
概要 We report on a patient with a submicroscopic deletion of 12q13 detected by array-CGH and confirmed by FISH. He was haploinsufficient for the HOXC gene cluster and some other neighboring genes. HOX genes have an important role in the initial formation of the body. The patient showed characteristic features including severe kyphoscoliosis, digital abnormalities, cardiac anomaly, expressive language, and global developmental delay. Radiologic features of the fingers had some similarities with those for multiple synostosis syndrome. No human genetic disorders due to HOXC abnormalities are yet known. We tentatively assume that his skeletal anomalies are associated with haploinsufficiency of the HOXC gene cluster. Further studies are necessary to determine the clinical importance of haploinsufficiency of the HOXC gene cluster.
DOI 10.1002