1q21.1 Microduplication expression in adults

Dolcetti, Alessia; Silversides, Candice K.; Marshall, Christian R.; Lionel, Anath C.; Stavropoulos, Dimitri J.; Scherer, Stephen W.; Bassett, Anne S.

doi:10.1038/gim.2012.129

Cited by 87 publications

(100 citation statements)

References 49 publications

(142 reference statements)

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“…2,8 The reciprocal phenotypes of microcephaly and macrocephaly have also been previously reported 1,2 in clinically ascertained patients. We identified a significant inverse association between head size and both verbal IQ and fine motor ability in duplication carriers.…”

Section: Discussionmentioning

confidence: 60%

“…[1][2][3][4][5][6][7] Phenotypes associated with 1q21.1 also include other psychiatric diagnoses such as learning disabilities, attention-deficit hyperactivity disorder (ADHD), bipolar disorder, anxiety, and depression. 1,3,8 Although both deletions and duplications have been reported in individuals with schizophrenia and ASD, deletions have been more strongly associated with schizophrenia than duplications [9][10][11][12] and duplications more strongly associated with ASD/autistic features than deletions. 2,3,6,8 Most studies of 1q21.1 have reported on individuals ascertained through disease-specific series, e.g., work performed by The International Schizophrenia Consortium (2008) and Levinson et al 9,12 Studies of patients ascertained from genetics clinics [1][2][3]6 provide a broader understanding of the full range of the clinical phenotype but are limited in the availability of standardized, dimensionally assessed behavioral and psychiatric features.…”

Section: Introductionmentioning

confidence: 99%

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Clinical phenotype of the recurrent 1q21.1 copy-number variant

Bernier

Steinman

Reilly

et al. 2016

Genetics in Medicine

133

163

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Purpose:To characterize the clinical phenotype of the recurrent copy-number variation (CNV) at 1q21.1, we assessed the psychiatric and medical phenotypes of 1q21.1 deletion and duplication carriers ascertained through clinical genetic testing and family member cascade testing, with particular emphasis on dimensional assessment across multiple functional domains. Methods:Nineteen individuals with 1q21.1 deletion, 19 individuals with the duplication, and 23 familial controls (noncarrier siblings and parents) spanning early childhood through adulthood were evaluated for psychiatric, neurologic, and other medical diagnoses, and their cognitive, adaptive, language, motor, and neurologic domains were also assessed. Twenty-eight individuals with 1q21.1 CNVs (15 deletion, 13 duplication) underwent structural magnetic resonance brain imaging.Results: Probands with 1q21.1 CNVs presented with a range of psychiatric, neurologic, and medical disorders. Deletion and duplication carriers shared several features, including borderline cognitive functioning, impaired fine and gross motor functioning, articulation abnormalities, and hypotonia. Increased frequency of Autism Spectrum Disorder (ASD) diagnosis, increased ASD symptom severity, and increased prevalence of macrocephaly were observed in the duplication relative to deletion carriers, whereas reciprocally increased prevalence of microcephaly was observed in the deletion carriers.Conclusions: Individuals with 1q21.1 deletions or duplications exhibit consistent deficits on motor and cognitive functioning and abnormalities in head circumference.

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Section: Discussionmentioning

confidence: 60%

Section: Introductionmentioning

confidence: 99%

Clinical phenotype of the recurrent 1q21.1 copy-number variant

Bernier

Steinman

Reilly

et al. 2016

Genetics in Medicine

133

163

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“…4 Individualized genetic counseling would be possible where clinical genetic testing is indicated and available, for example, for individuals with large rare CNVs such as 22q11.2 deletions and 1q21.1 duplications. 7,49 Comparable individualized counseling may soon be extended to multiple other genetic factors that await clinical detection for individuals with TOF and other CHDs.…”

Section: Discussionmentioning

confidence: 99%

Reproductive Fitness and Genetic Transmission of Tetralogy of Fallot in the Molecular Age

Chin-Yee¹,

Costain²,

Swaby³

et al. 2014

Circ Cardiovasc Genet

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Background-Individuals with tetralogy of Fallot (TOF) now routinely survive to reproductive age and beyond. Reproductive fitness of adults with TOF and recurrence risks to offspring are of increasing interest in the modern era, especially given recent molecular genetic discoveries. Methods and Results-After excluding individuals with known genetic syndromes, 543 unrelated adults with TOF underwent a detailed family history assessment and molecular characterization for rare copy number variations using high-resolution genome-wide microarrays. Men and women with TOF had significantly fewer offspring compared with an age-matched comparison group without congenital heart disease (CHD; P=0.0004). No aspect of rare copy number variation burden was a predictor of decreased reproductive fitness. Corresponding with the advent of modern surgical repairs, reproductive fitness of women began to exceed that of men (P=0.0490). Recurrence risk for CHD in offspring was 4.8%, with no significant differences between men and women with TOF. The risk of severe CHD in offspring (2.3%) far exceeded population expectations (relative risk, 15.6; 95% confidence interval, 7.9-31.0). Most cases of vertical transmission of CHD were not explained by the transmission of a large rare copy number variation. Although conotruncal lesions (31.5%) were the most commonly reported CHD in relatives, the familial spectrum of disease included many anatomically discordant lesions. Conclusions-Men

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“…16 Assessment of demographic variables, including basic assumptions used to classify cases as children or adults, and as male or female, was performed using the methods outlined elsewhere. 8 For each subject, dysmorphic features reported in the originating manuscript or supplemental material were individually coded and analyzed.…”

Section: Clinical Definitionsmentioning

confidence: 99%

“…8 We did not rely solely on ascertainment data to determine the prevalence of various disorders associated with the 15q13.3 deletion but rather categorized individual features for each case in the sample so that the overall prevalence for each feature could be determined.…”

Section: Advantages and Limitationsmentioning

confidence: 99%