Novel MCA/ID syndrome with ASH1L mutation

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

研究成果: Article査読

6 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)1644-1648
ページ数5
ジャーナルAmerican Journal of Medical Genetics, Part A
173
6
DOI
出版ステータスPublished - 2017 6

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

フィンガープリント 「Novel MCA/ID syndrome with ASH1L mutation」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