ヤマモト　トシユキ   Yamamoto Toshiyuki   山本　俊至    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
論文種別	原著
言語種別	日本語
査読の有無	査読あり
表題	7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.
掲載誌名	正式名：European Journal of Medical Genetics 略　 称：Eur J Med Genet ISSNコード：17697212
掲載区分	国外
巻・号・頁	59(10),502-506頁
著者・共著者	Shimojima K, Narai S, Togawa M, Doumoto T, Sangu N, Vanakkere OM, De Paepee A, Edwards M, Whitehall J, Brescianini S, Petit F, Andrieux J, Yamamoto T.
担当区分	最終著者,責任著者
発行年月	2016/10
概要	There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited clinical similarities including non-specific developmental delay, short stature, microcephaly, and other distinctive features. The shortest region of overlap within the 7p22.1 region includes five genes, FBXL18, ACTB, FSCN1, RNF216, and ZNF815P. Of these genes, only ACTB is known to be associated with an autosomal dominant trait. Dominant negative mutations in ACTB are responsible for Baraitser-Winter syndrome 1. We analyzed ACTB expression in immortalized lymphocytes derived from one of the patients and found that it was reduced to approximately half that observed in controls. This indicates that ACTB expression is linearly correlated with the gene copy number. We suggest that haploinsufficiency of ACTB may be responsible for the clinical features of patients with 7p22.1 microdeletions.
DOI	10.1016/j.ejmg.2016.09.008
PMID	27633570