ArticleAmerican journal of medical genetics. Part A2018
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Correlation between 22q11.2 deletion syndrome phenotype and deletion location: a meta-analysis.Archives of gynecology and obstetrics · 2025Pooled it
- Multicenter retrospective study on perceived effectiveness, reported side effects, and cognitive outcomes of SSRIs in 22q11.2 deletion syndrome.European child & adolescent psychiatry · 2026Article
- Article
- Multicenter retrospective study on effectiveness, reported side effects, and cognitive outcomes of SSRIs in 22q11.2 deletion syndrome.Research square · 2025Article
- The importance of intrafamilial cognitive phenotyping by the case of 22q11.2 deletion, 15q11.2 deletion, and families with inherited copy number variants of unknown significance.Journal of neurodevelopmental disorders · 2025Article
- Influence of Polygenic Risk on Height and BMI in Adults With a 22q11.2 Microdeletion.Journal of the Endocrine Society · 2025Article
- Article
- Review
- Atypical cortical networks in children at high-genetic risk of psychiatric and neurodevelopmental disorders.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
- Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.Human brain mapping · 2024Article
- Approaches to studying the impact of 22q11.2 copy number variants.American journal of human genetics · 2023Article
- Article
- Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis.Journal of neurodevelopmental disorders · 2023Review
- Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects.Journal of neurodevelopmental disorders · 2023Article
- Protein kinase CK2 phosphorylates a conserved motif in the Notch effector E(spl)-Mγ.Molecular and cellular biochemistry · 2023Article
- 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.International journal of medical sciences · 2023Article
- Article
- Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.Genes · 2022Article
- The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia.Nature communications · 2022Article
- NeuroSCORE is a genome-wide omics-based model that identifies candidate disease genes of the central nervous system.Scientific reports · 2022Article
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Authors and funding
45 authors at 20 institutions in 13 countries.
Funding
Abstract
The 22q11.2 deletion syndrome is caused by non-allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A-D (AD) deletion of 3 million base pairs (Mb). In this report, we evaluated IQ scores in 1,478 subjects with 22q11.2DS. The mean of full scale IQ, verbal IQ, and performance IQ scores in our cohort were 72.41 (standard deviation-SD of 13.72), 75.91(SD of 14.46), and 73.01(SD of 13.71), respectively. To investigate whether IQ scores are associated with deletion size, we examined individuals with the 3 Mb, AD (n = 1,353) and nested 1.5 Mb, AB (n = 74) deletions, since they comprised the largest subgroups. We found that full scale IQ was decreased by 6.25 points (p = .002), verbal IQ was decreased by 8.17 points (p = .0002) and performance IQ was decreased by 4.03 points (p = .028) in subjects with the AD versus AB deletion. Thus, individuals with the smaller, 1.5 Mb AB deletion have modestly higher IQ scores than those with the larger, 3 Mb AD deletion. Overall, the deletion of genes in the AB region largely explains the observed low IQ in the 22q11.2DS population. However, our results also indicate that haploinsufficiency of genes in the LCR22B-D region (BD) exert an additional negative impact on IQ. Furthermore, we did not find evidence of a confounding effect of severe congenital heart disease on IQ scores in our cohort.
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