ArticleEuropean journal of human genetics : EJHG2014
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 42 citations in OpenAlex.
- Phenotypic expansion and structural analysis of the IQSEC2 p.Asp894Asn variant in a consanguineous Pashtun family.Neurogenetics · 2026Article
- Article
- Natural Course ofChildren (Basel, Switzerland) · 2023Article
- Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms.Journal of pediatric genetics · 2023Article
- Differences in Expression ofInternational journal of molecular sciences · 2022Article
- Article
- Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.Genes · 2021Review
- Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.Journal of genetics · 2020Article
- BRAG1/IQSEC2 as a regulator of small GTPase-dependent trafficking.Small GTPases · 2020Review
- Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.American journal of human genetics · 2019Article
- Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.Journal of pediatric genetics · 2017Review
- Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.Human genetics · 2017Article
- The BRAG/IQSec family of Arf GEFs.Small GTPases · 2016Review
- Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.Molecular genetics & genomic medicine · 2016Article
- 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 · 2016Article
- IQSEC2 and X-linked syndromal intellectual disability.Psychiatric genetics · 2016Article
- Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.European journal of human genetics : EJHG · 2016Article
- In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.Neurology. Genetics · 2016Article
- Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Molecular autism · 2016Article
- Next-generation sequencing in X-linked intellectual disability.European journal of human genetics : EJHG · 2015Article
Corrections and comments
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Authors and funding
20 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Intellectual disability (ID) is frequent in the general population, with 1 in 50 individuals directly affected worldwide. The multiple etiologies include X-linked ID (XLID). Among syndromic XLID, few syndromes present severe ID associated with postnatal microcephaly and midline stereotypic hand movements. We report on three male patients with ID, midline stereotypic hand movements, hypotonia, hyperkinesia, strabismus, as well as seizures (2/3), and non-inherited and postnatal onset microcephaly (2/3). Using array CGH and exome sequencing we characterised two truncating mutations in IQSEC2, namely two de novo intragenic duplication mapped to the Xp11.22 region and a nonsense mutation in exon 7. We propose that truncating mutations in IQSEC2 are responsible for syndromic severe ID in male patients and should be screened in patients without mutations in MECP2, FOXG1, CDKL5 and MEF2C.
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