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Article

De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder.

European journal of medical genetics - 1 Jan 2019

Shen Wei, Krautscheid Patti, Rutz Audrey M, Bayrak-Toydemir Pinar, Dugan Sarah L

Abstract excerpt

De novo variants of ASH1L, which encodes a histone methyltransferase, have been reported in a few patients with intellectual disability and autistic features. Here, we identified a novel de novo frame-shift variant, c.2422_2423delAAinsT which predicts p.(Lys808TyrfsTer40), in ASH1L in a patient with multiple congenital anomalies (MCA), fine motor developmental delay, learning difficulties, attention deficit...

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Identifiers

PMID: 29753921
DOI: 10.1016/j.ejmg.2018.05.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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