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 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