Novel MCA/ID syndrome with ASH1L mutation

Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

We identified a novel mutation in ASH1L in a patient with severe intellectual disability, growth failure, microcephaly, facial dysmorphism, myelination delay, and skeletal abnormalities. ASH1L is a histone methyltransferase that associates with the transcribed region of all active genes examined, including Hox genes. It catalyzes H3K36 methylation and plays important roles in development. There has been increasing evidence that heterozygous mutation of ASH1L is associated with ID and autism spectrum disorders. We suggest that ASH1L abnormalities may cause a novel MCA/ID syndrome.

Original languageEnglish
Pages (from-to)1644-1648
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number6
DOIs
Publication statusPublished - 2017 Jun

Keywords

  • ASH1L
  • H3K36 methylation
  • intellectual disability
  • multiple congenital anomaly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    Okamoto, N., Miya, F., Tsunoda, T., Kato, M., Saitoh, S., Yamasaki, M., Kanemura, Y., & Kosaki, K. (2017). Novel MCA/ID syndrome with ASH1L mutation. American Journal of Medical Genetics, Part A, 173(6), 1644-1648. https://doi.org/10.1002/ajmg.a.38193