ArticleEuropean journal of medical genetics2018
A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.
Article in European journal of medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 18 citations in OpenAlex.
- A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants.Translational psychiatry · 2023Review
- Review
- 16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development inFrontiers in genetics · 2022Article
- Copy number variation and neuropsychiatric illness.Current opinion in genetics & development · 2021Review
- A cross-comparison of cognitive ability across 8 genomic disorders.Current opinion in genetics & development · 2021Review
- Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.AIMS molecular science · 2021Article
- Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition.Molecular genetics and metabolism reports · 2020Article
- Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome.Neurosciences (Riyadh, Saudi Arabia) · 2020Article
- Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.BMC medical genetics · 2020Article
- Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2018Article
- Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.American journal of medical genetics. Part A · 2018Article
- Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.American journal of medical genetics. Part C, Seminars in medical genetics · 2018Article
- Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.Molecular cytogenetics · 2018Article
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Authors and funding
6 authors at 4 institutions in 2 countries.
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Abstract
The 22q11.2 deletion syndrome (22q11DS), the most common survivable human genetic deletion disorder, is caused by a hemizygous deletion of 30-40 contiguous genes on chromosome 22, many of which have not been well characterized. Clinical features seen in patients with this deletion, including intellectual disability, are not completely penetrant and vary in severity between patients, suggesting the involvement of variants elsewhere in the genome in the manifestation of the phenotype. Given that it is a relatively rare disorder (1/2000-6000 in humans), limited research has shed light into the contribution of these second-site variants to the developmental pathogenesis that underlies 22q11DS. As CNVs throughout the genome might constitute such a genetic risk factor for variability in the 22q11DS phenotypes such as intellectual disability, we sought to determine if the overall burden of rare CNVs in the genetic background influenced the phenotypic variability. We analyzed CNV and clinical data from 66 individuals with 22q11DS, and found that 77% (51/66) of individuals with the 22q11DS also carry additional rare CNVs (<0.1% frequency). We observed several trends between CNV burden and phenotype, including that the burden of large rare CNVs (>200 Kb in size) was significantly higher in 22q11DS individuals with intellectual disability than with normal IQ. Our analysis shows that rare CNVs may contribute to intellectual disability 22q11DS, and further analysis on larger 22q11DS cohorts should be performed to confirm this correlation.
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