オマタ　タク   OMATA Taku   小俣　卓    所属   医学部 医学科（附属八千代医療センター）    職種   准教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.
掲載誌名	正式名：Brain & development 略　 称：Brain Dev ISSNコード：18727131/03877604
掲載区分	国外
出版社	Elsevier B.V.
巻・号・頁	38(6),pp.581-584
著者・共著者	Taku Omata†, Jun-ichi Nagai, Hiroko Shimbo, Shiro Koizume, Yohei Miyagi, Kenji Kurosawa, Sumimasa Yamashita, Hitoshi Osaka*, Ken Inoue
担当区分	筆頭著者
発行年月	2016/06
概要	A patient with an unusually mild form of Pelizaeus-Merzbacher disease was studied. Clinically, mild developmental delay with acquisition of assisted walking at 16months and mild spastic tetraplegia were evident, but no nystagmus, cerebellar, or extra-pyramidal signs were present. PLP1 mutation analysis revealed a nucleotide substitution adjacent to the acceptor site of intron 3, NM_000533.4:c.454-9T>G. Expression analysis using the patient's leukocytes demonstrated an additional abnormal transcript including the last 118bp of intron 3. In silico prediction analysis suggested the reduction of wild-type acceptor activity, which presumably evokes the cryptic splicing variant. Putative cryptic transcript results in premature termination, which may explain the mild clinical phenotype observed in this patient.
DOI	10.1016/j.braindev.2015.12.002
PMID	26725305