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	症例報告
言語種別	英語
査読の有無	査読あり
表題	A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.
掲載誌名	正式名：American Journal of Medical Genetics. Part A 略　 称：Am J Med Genet A ISSNコード：15524825/15524833
掲載区分	国外
巻・号・頁	170A(4),pp.1076-1079
著者・共著者	Shimojima K, Okamoto N, Yamamoto T
発行年月	2016/04
概要	Recent advances in molecular technology have led to the discovery of several genes related to human malformations of cortical development (MCDs). The beta-tubulin class III gene (TUBB3) was identified as a gene responsible for MCDs. Although mouse-model experiments have not revealed any findings of neuronal migration disorders, human TUBB3 mutations have been identified in patients with congenital fibrosis of the extraocular muscles. Since the discovery of a TUBB3 mutation, only 15 mutations have been identified. In this study, comprehensive mutation screening through next-generation sequencing identified a novel TUBB3 mutation (p.Ser230Leu) in a sporadic patient with moderate developmental delay associated with mild MCD. Compared to patients with the alpha-tubulin class 1a gene (TUBA1A) mutations, patients with TUBB3 mutations show milder phenotypic manifestations and milder MCD. Therefore, patients with milder MCD manifestations may be under-diagnosed, and TUBB3 mutations may be rarely identified. Additional genotype-phenotype information should be accumulated for further understanding of the TUBB3 functional relevance.
DOI	10.1002/ajmg.a.37545
PMID	26739025