Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders

Nobuhiko Okamoto, F. Miya, T. Tsunoda, M. Kato, S. Saitoh, M. Yamasaki, A. Shimizu, C. Torii, Y. Kanemura, K. Kosaki

研究成果: Article査読

26 被引用数 (Scopus)

抄録

We developed a next-generation sequencing (NGS) based mutation screening strategy for neurodevelopmental diseases. Using this system, we screened 284 genes in 40 patients. Several novel mutations were discovered. Patient 1 had a novel mutation in ACTB. Her dysmorphic feature was mild for Baraitser-Winter syndrome. Patient 2 had a truncating mutation of DYRK1A. She lacked microcephaly, which was previously assumed to be a constant feature of DYRK1A loss of function. Patient 3 had a novel mutation in GABRD gene. She showed Rett syndrome like features. Patient 4 was diagnosed with Noonan syndrome with PTPN11 mutation. He showed complete agenesis of corpus callosum. We have discussed these novel findings.

本文言語English
ページ(範囲)288-292
ページ数5
ジャーナルClinical Genetics
88
3
DOI
出版ステータスPublished - 2015 9月 1

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

フィンガープリント

「Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル