Anne S Bassett

..Individuals with 22qDS are at genetically high risk for schizophrenia...

..2DS. The results reinforce the need for further efforts to identify specific molecular mechanisms underlying this expression and to identify the 1% of patients with schizophrenia who carry 22q11.2 deletions...

..Variable expression of congenital and later onset features contributes to its under-recognition. Longevity in those surviving childhood is believed to be normal but data are limited...

..COMT is within the region commonly deleted in 22q11 deletion syndrome (22q11DS), a syndrome with high prevalence of schizophrenia. We examined the role of COMT in schizophrenia-related expression in 22q11DS...

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..Many treatable conditions may be anticipated and features may accumulate over time. The results have implications for clinical assessment and management, genetic counseling and research into pathophysiological mechanisms...

..Identifying large, rare CNVs (particularly 22q11.2 deletions) can lead to significant changes in management, follow-up, and genetic counselling that are helpful to the patient, family, and clinicians...

..The progress to date suggests that understanding of a neurodevelopmental pathway from genetic susceptibility to schizophrenia will soon be fundamentally altered by molecular genetic advances in this complex disease...

..To outline new insights into the genetic etiology of schizophrenia...

..In this article, we propose a genetic model of etiopathogenesis that is consistent both with a modified neurodevelopmental hypothesis and our current knowledge about schizophrenia and molecular genetics...

..22qDS-schizophrenia is an important genetic subtype and a valuable model of neurodevelopmental mechanisms involved in the pathogenesis of schizophrenia...

..55 (1.01, 2.38)). The results provide further support that early environmental exposures influence schizophrenia expression even in the presence of strong genetic predisposition...

..61, 11.91, respectively). The results suggest that childhood trauma is associated with expression of schizophrenia independent of measured genetic susceptibility and may be a candidate for gene-environment research using genetic variants...

..Further studies are needed to elucidate the molecular basis of schizophrenia and clinical heterogeneity in 22q11DS...

..Prospective studies of mild head injury should consider genetic predisposition for possible long-term neurobehavioral sequelae...

..Further, the data provide new evidence for dosage sensitive genes in PLXNA2-semaphorin signaling and related developmental processes in human cardiovascular development, consistent with previous animal models...

..2 deletion is found to have been inherited, usually from an affected mother. Serious neuropsychiatric conditions that are commonly associated features of 22q11.2DS could disproportionately affect reproductive success in males...

..These findings have potential implications for the genetic counseling of families of those with 22q11DS and support the notion that interacting genetic variants might contribute to the variable expression of 22q11DS...

..We aimed to determine an optimal combination of extracardiac features that could be clinically helpful in identifying adults with tetralogy of Fallot (TOF) and related conotruncal anomalies at highest risk for 22q11.2DS...

..2 deletion syndrome, as for schizophrenia in the general population, would be gray matter volumetric deficits, especially in the temporal lobes...

..We hypothesized that in adults with 22qDS the neurocognitive profiles would differ between those with and without schizophrenia...

..There are limited data on adult functioning in 22q11.2 deletion syndrome...

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..Composite measures of memory or processing speed may be heritable phenotypes useful for studies of neurocognition...

..The results suggest that the 13q13.1-q13.2 region may harbour a gene or genes important in cardiac development...

..These results suggest that the changes are primarily due to genetic risk and not illness effects, and may represent an intermediate phenotype...

..1 duplications. These initial results, however, suggest that anticipatory care should include attention to later-onset conditions such as schizophrenia.Genet Med 2013:15(4):282-289...

..22q11 Deletion Syndrome may provide a valuable genetic neurodevelopmental model for investigating the relationship between abnormalities in brain development and the expression of schizophrenia...

..Of the few known causes, 22q11.2 deletion syndrome (22q11DS) is the most common. We sought to define other clinical subgroups by focusing on cardiac and extracardiac features...

..Other similarly affected patients likely remain to be diagnosed in adult populations of schizophrenia and/or mental retardation...

..The finding of cosegregation of schizophrenia and a partial trisomy of chromosome 5 in the family suggests a potential location of a gene or genes linked to schizophrenia...

..These results suggest that genetic counselors could benefit from further education regarding psychiatric illness in 22q11.2DS and best strategies for discussing this important subject with parents and patients...

..To determine which serotonergic system-related single nucleotide polymorphisms (SNPs) predicted variation in treatment response to citalopram in depression following a traumatic brain injury (TBI)...

..05). CONCLUSION: The results suggest that postmaturity may be associated with expression of schizophrenia in a 22qDS subtype of schizophrenia. SGA may be a non-specific marker of neurodevelopmental disturbance...

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..Both early developmental brain abnormalities and fetal and later microvascular pathology may play a role in the pathogenesis of the neuropsychiatric phenotype of 22qDS, including white matter abnormalities and schizophrenia...

..Delineating patterns of dysmorphic features may help identify subgroups that could represent neurodevelopmental forms of schizophrenia with more homogeneous origins...

..CONCLUSIONS: These results suggest a stronger familial relationship of ID with schizophrenia than psychotic affective disorder, and lend some support to the neurodevelopmental hypothesis of schizophrenia...

..86, genomic P value <.06 under the recessive language impairment model). Our findings underscore the utility of traditional LOD-score-based methods in finding genes for complex diseases, specifically, SLI...

..This duplication may be involved in genomic instability, leading to gene deletion, and so presents an intriguing candidate locus for schizophrenia susceptibility...

..Consistent with several recently identified candidate genes for schizophrenia, CAPON is involved in signal transduction in the NMDA receptor system, highlighting the potential importance of this pathway in the etiology of schizophrenia...

..The features in this population do not support the notion that BBS and LMS are distinct. The lack of a genotype-phenotype correlation implies that BBS proteins interact and are necessary for the development of many organs...

..29,95 % CI: 1.14, 1.45). Gender of proband was unrelated to sibling risk of the same illness, and tests of interaction effects between proband age at onset and gender on sibling risk were nonsignificant...

..In conclusion, QuantiSNP is a novel algorithm for high-resolution CNV/aneuploidy detection with application to clinical genetics, cancer and disease association studies...

..There is greater consistency of linkage results across studies than has been previously recognized. The results suggest that some or all of these regions contain loci that increase susceptibility to schizophrenia in diverse populations...

..Yet, similar to other SCZ candidate genes, studies have been inconsistent with respect to the associated alleles...

..CONCLUSIONS: The unknown mutation at the ARVD5 locus causing ARVC results in high mortality. Risk stratification using genetic haplotyping and ICD therapy produced improved survival for males...

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