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

Research output: Contribution to journalArticlepeer-review

31 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)288-292
Number of pages5
JournalClinical Genetics
Issue number3
Publication statusPublished - 2015 Sept 1


  • Baraitser-Winter syndrome
  • DYRK1A
  • Next-generation sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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