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Article

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.

European journal of human genetics : EJHG - 1 Nov 2016

Reinstein Eyal, Tzur Shay, Cohen Rony, Bormans Concetta, Behar Doron M

Abstract excerpt

Pathogenic variants in the NONO gene have been most recently implicated in X-linked intellectual disability syndrome. This observation has been supported by studies of NONO-deficient mice showing that NONO has an important role in regulating inhibitory synaptic activity. Thus far, the phenotypic spectrum of affected patients remains limited. We applied whole exome sequencing to members of a family in which the...

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Identifiers

PMID: 27329731
DOI: 10.1038/ejhg.2016.72
PMCID: PMC5110068

Genes

NONO

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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Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.PMID 27329731Read ↗

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Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.Semantic proximity Read ↗

A novel NONO variant that causes developmental delay and cardiac phenotypes.Semantic proximity Read ↗

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