A population study of chromosome 22q11 deletions in infancy

Goodship, Judith A.; Cross, I; Li‐Ling, Jesse; Wren, Christopher

doi:10.1136/adc.79.4.348

Cited by 225 publications

(171 citation statements)

References 17 publications

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“…Nevertheless, given an estimated prevalence of 22q11DS in the general population of 1/4 000-1/6 000 (Botto et al, 2003;Goodship et al, 1998;Oskarsdottir et al, 2004;Tezenas Du Montcel et al, 1996;Zori et al, 1998), the prevalence of 22q11DS in schizophrenia patients is still approximately 30-45 times higher than expected. The results of our literature study also show that the prevalence of 22q11DS in schizophrenia patients with childhood onset (1.9-11.9%) is considerably higher than the prevalence in schizophrenia patients with adult onset (0.3-1%).…”

Section: Discussionmentioning

confidence: 98%

Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia

Hoogendoorn

Vorstman

Jalali

et al. 2008

Schizophrenia Research

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The objectives of this study were 1) to examine whether the prevalence of 22q11.2 deletion syndrome (22q11DS) in schizophrenia patients with the Deficit syndrome is higher than the reported ~2% for the population of schizophrenia patients as a whole, and 2) to estimate the overall prevalence of 22q11DS among schizophrenia patients by combining all available studies. Our sample, enriched for patients with the Deficit syndrome, had 88% power to detect an estimated prevalence of 5% of 22q11.2 deletions. No 22q11.2 deletions were detected in 311 schizophrenia patients, 146 of whom met criteria for the Deficit syndrome. Our literature research revealed that in eight studies sixteen deletions were identified in 2133 patients with schizophrenia. This corresponds to a prevalence of 0.75% (95%CI: 0.5%-1.2%). In conclusion: The prevalence of 22q11.2DS in schizophrenia patients with the Deficit syndrome is not higher than in the population of schizophrenia patients as a whole. The prevalence of 22q11.2DS in schizophrenia patients is lower than the frequently reported prevalence of 2% or more.

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Section: Discussionmentioning

confidence: 98%

Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia

Hoogendoorn

Vorstman

Jalali

et al. 2008

Schizophrenia Research

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“…It is unlikely that these individuals were erroneously ascertained individuals with cardiovascular malformations, as the classification of asthma was based on spirometry. However, one in 3900 is believed to represent a minimal estimate of the prevalence of VCFS, having been based on ascertainment of individuals with cardiac anomalies (Goodship et al 1998;Botto et al 2003;Oskarsdottir et al 2004). In contrast, 22q11 deletions are known to be highly variable in presentation (Bassett et al 2005;Kobrynski and Sullivan 2007), with reports in some cases of individuals only being identified after diagnosis in their children (McDonald-McGinn et al 2001), making it unclear whether this represents a significant elevation above the true prevalence of VCFS deletions.…”

Section: Discussionmentioning

confidence: 99%

De novo rates and selection of large copy number variation

et al. 2010

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While copy number variation (CNV) is an active area of research, de novo mutation rates within human populations are not well characterized. By focusing on large (>100 kbp) events, we estimate the rate of de novo CNV formation in humans by analyzing 4394 transmissions from human pedigrees with and without neurocognitive disease. We show that a significant limitation in directly measuring genome-wide CNV mutation is accessing DNA derived from primary tissues as opposed to cell lines. We conservatively estimated the genome-wide CNV mutation rate using single nucleotide polymorphism (SNP) microarrays to analyze whole-blood derived DNA from asthmatic trios, a collection in which we observed no elevation in the prevalence of large CNVs. At a resolution of~30 kb, nine de novo CNVs were observed from 772 transmissions, corresponding to a mutation rate of m = 1.2 3 10 -2 CNVs per genome per transmission (m = 6.5 3 10 -3 for CNVs >500 kb). Combined with previous estimates of CNV prevalence and assuming a model of mutation-selection balance, we estimate significant purifying selection for large (>500 kb) events at the genome-wide level to be s = 0.16. Supporting this, we identify de novo CNVs in 717 multiplex autism pedigrees from the AGRE collection and observe a fourfold enrichment (P = 1.4 3 10 -3 ) for de novo CNVs in cases of multiplex autism versus unaffected siblings, suggesting that many de novo CNV mutations contribute a subtle, but significant risk for autism. We observe no parental bias in the origin or transmission of CNVs among any of the cohorts studied.

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“…Ethnic differences in prevalence may exist, but no studies have formally examined this issue. The best available estimates, based largely on infants with congenital anomalies leading to genetic testing, place the prevalence of 22qDS at about 1 in 4000 [5].…”

Section: Common Features and Prevalence Of 22qdsmentioning

confidence: 99%

Schizophrenia and 22q11.2 deletion syndrome

Bassett

Chow²

2008

Curr Psychiatry Rep

212

166

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Abstract22q11.2 deletion syndrome (22qDS) is a genetic syndrome associated with a chromosome 22q11.2 deletion and variable phenotypic expression that commonly includes schizophrenia. Approximately 1% of patients with schizophrenia have 22qDS. The schizophrenia in 22qDS appears broadly similar to that found in the general population with respect to core signs and symptoms, treatment response, neurocognitive profile, and MRI brain anomalies. However, individuals with a 22qDS form of schizophrenia typically have distinguishable physical features, have a lower IQ, and may differ in auxiliary clinical features. IQ, length of 22q11.2 deletions, and COMT functional allele do not appear to be major risk factors for schizophrenia in 22qDS.Ascertainment biases and small sample sizes are limitations of most studies. Larger studies over the lifespan and continuing education about this underrecognized condition are needed. 22qDS-schizophrenia is an important genetic subtype and a valuable model of neurodevelopmental mechanisms involved in the pathogenesis of schizophrenia.

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A population study of chromosome 22q11 deletions in infancy

Cited by 225 publications

References 17 publications

Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia

Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia

De novo rates and selection of large copy number variation

Schizophrenia and 22q11.2 deletion syndrome

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