Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

Nature genetics - 1 Jun 2010

Shoubridge Cheryl, Tarpey Patrick S, Abidi Fatima, Ramsden Sarah L, Rujirabanjerd Sinitdhorn, Murphy Jessica A, Boyle Jackie, Shaw Marie, Gardner Alison, Proos Anne, Puusepp Helen, Raymond F Lucy, Schwartz Charles E, Stevenson Roger E, Turner Gill, Field Michael, Walikonis Randall S, Harvey Robert J, Hackett Anna, Futreal P Andrew, Stratton Michael R, Gécz Jozef

Abstract excerpt

The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder. In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Guanine Nucleotide Exchange Factors

Share to Mutation

Share to Pedigree

Share to X-Linked Intellectual Disability

Source

Open in PubMed Open full text

Identifiers

PMID: 20473311
DOI: 10.1038/ng.588
PMCID: PMC3632837

Genes

IQSEC2

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.PMID 20473311Read ↗

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

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

C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations.Semantic proximity Read ↗

X-Linked intellectual disability update 2022.Semantic proximity Read ↗

IQSEC2 and X-linked syndromal intellectual disability.Semantic proximity Read ↗

Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.Semantic proximity Read ↗

Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.Semantic proximity Read ↗

Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients.Semantic proximity Read ↗

[Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].Semantic proximity Read ↗

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.Semantic proximity Read ↗

Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies.Semantic proximity Read ↗

Next-generation sequencing in X-linked intellectual disability.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.