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 総説
言語種別 英語
査読の有無 査読あり
招待の有無 招待あり
表題 Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.
掲載誌名 正式名:Congenital anomalies
略  称:Congenit Anom (Kyoto)
ISSNコード:(1741-4520)0914-3505(Linking)
掲載区分国外
巻・号・頁 55(3),pp.125-32
著者・共著者 Shimojima K, Okamoto N, Yamamoto T
発行年月 2015/08
概要 Many new microdeletion syndromes have been characterized in the past decade, including 2p15-p16.1 microdeletion syndrome. More than 10 patients with this syndrome have been described. Recently, we encountered two additional patients with 2p15-p16.1 microdeletion syndrome. All patients showed variable degrees of intellectual disability, with the autistic features characteristic of this syndrome. Seven out of 16 patients (44%) showed structural abnormalities in the brain, which is also an important feature of this syndrome. The shortest region of microdeletion overlap among the patients includes two genes, USP34 and XPO1. Although these genes have some functional relevance to cancer, they have not been associated with neurological functions. Diagnosis of additional patients with 2p15-p16.1 microdeletion syndrome and identification of pathogenic mutations in this region will help identify the genes responsible for the neurological features of the syndrome.
DOI 10.1111/cga.12112
PMID 25900130