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   講師
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.
掲載誌名	正式名：Clinical Genetics 略　 称：Clin Genet ISSNコード：(1399-0004)0009-9163(Linking)
掲載区分	国外
巻・号・頁	89(6),pp.739-43
著者・共著者	Oka M, Shimojima K, Yamamoto T, Hanaoka Y, Sato S, Yasuhara T, Yoshinaga H, Kobayashi K
発行年月	2016/06
概要	The p.Asp211Gly homozygous HYLS1 mutation is so far known to cause only hydrolethalus syndrome, a lethal malformation syndrome. We report living sibling patients with a homozygous no-stop mutation in exon 4 of HYLS1, NM_145014.2:c.900A>C (p.Ter300TyrextTer11) in the second decade of life. The proband has Joubert syndrome (JS). The younger brother also has JS and an enlarged posterior fossa that was initially diagnosed as Dandy-Walker malformation. The present mutation is unique as it affects the stop codon. The product protein HYLS1 plays an essential role in the formation of the primary cilium. This report provides insight into the spectrum of disorders involving midline brain defects closely related to cilium dysfunction or ciliopathy.
DOI	10.1111/cge.12752
PMID	26830932