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Article

Novel MCA/ID syndrome with ASH1L mutation.

American journal of medical genetics. Part A - 1 Jun 2017

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

Abstract excerpt

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...

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PMID: 28394464
DOI: 10.1002/ajmg.a.38193

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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