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Article

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

European journal of human genetics : EJHG - 1 May 2016

Moey Ching, Topper Scott, Karn Mary, Johnson Amy Knight, Das Soma, Vidaurre Jorge, Shoubridge Cheryl

Abstract excerpt

Mutations in the Aristaless-related homeobox gene (ARX) lead to a range of X-linked intellectual disability phenotypes, with truncating variants generally resulting in severe X-linked lissencephaly with ambiguous genitalia (XLAG), and polyalanine expansions and missense variants resulting in infantile spasms. We report two male patients with early-onset infantile spasms in whom a novel c.34G>T (p.(E12*)) variant...

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Source

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Identifiers

PMID: 26306640
DOI: 10.1038/ejhg.2015.176
PMCID: PMC4930085

Genes

ARX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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