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Article

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

European journal of human genetics : EJHG - 1 Aug 2016

Madrigal Irene, Alvarez-Mora Maria Isabel, Rosell Jordi, Rodríguez-Revenga Laia, Karlberg Olof, Sauer Sascha, Syvänen Ann-Christine, Mila Montserrat

Abstract excerpt

The IQSEC2 gene is located on chromosome Xp11.22 and encodes a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases. This gene is known to have a significant role in cytoskeletal organization, dendritic spine morphology and synaptic organization. Variants in IQSEC2 cause moderate to severe intellectual disability in males and a variable phenotype in females because this gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26733290
DOI: 10.1038/ejhg.2015.267
PMCID: PMC4970682

Genes

IQSEC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.PMID 26733290Read ↗

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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.Semantic proximity Read ↗

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 FamilySemantic proximity Read ↗

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IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.Semantic proximity Read ↗

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