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Article ; Online: 7q11.23 deletion and duplication.

Osborne, Lucy R / Mervis, Carolyn B

Current opinion in genetics & development

2021 Volume 68, Page(s) 41–48

Abstract: Copy number variation (CNV) at 7q11.23 causes distinct disorders with both contrasting and overlapping phenotypic features of some but not all of the genes encompassed by the CNV. The spectrum of cognitive disabilities, psychopathology and altered ... ...

Abstract	Copy number variation (CNV) at 7q11.23 causes distinct disorders with both contrasting and overlapping phenotypic features of some but not all of the genes encompassed by the CNV. The spectrum of cognitive disabilities, psychopathology and altered behaviours associated with 7q11.23 CNV provides a tantalizing window of opportunity to better understand the molecular bases for complex human cognitive function and social behaviour. Study of individuals with atypical CNVs has narrowed the field of candidate genes, and the generation of mouse models has allowed further insight into their functions. Recent research has used high-throughput genomics techniques to interrogate the transcriptome and methylome, and initial strategies to correct gene transcription levels, pathophysiology and cognitive and behavioural phenotypes show promise.
MeSH term(s)	Chromosomes, Human, Pair 7 ; Cognition ; DNA Copy Number Variations ; Epigenome ; Gene Deletion ; Gene Duplication ; Genetic Association Studies ; Genomics/methods ; Humans ; Neurodevelopmental Disorders/genetics ; Social Behavior ; Transcriptome ; Williams Syndrome/genetics
Language	English
Publishing date	2021-02-17
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1077312-5
ISSN	1879-0380 ; 0959-437X
ISSN (online)	1879-0380
ISSN	0959-437X
DOI	10.1016/j.gde.2021.01.013
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Article ; Online: DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number.

Strong, Emma / Mervis, Carolyn B / Tam, Elaine / Morris, Colleen A / Klein-Tasman, Bonita P / Velleman, Shelley L / Osborne, Lucy R

NPJ genomic medicine

2023 Volume 8, Issue 1, Page(s) 25

Abstract: Williams-Beuren syndrome (WBS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders caused by deletion and duplication of a 1.5 Mb region that includes at least five genes with a known role in epigenetic regulation. We have shown ...

Abstract	Williams-Beuren syndrome (WBS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders caused by deletion and duplication of a 1.5 Mb region that includes at least five genes with a known role in epigenetic regulation. We have shown that CNV of this chromosome segment causes dose-dependent, genome-wide changes in DNA methylation, but the specific genes driving these changes are unknown. We measured genome-wide whole blood DNA methylation in six participants with atypical CNV of 7q11.23 (three with deletions and three with duplications) using the Illumina HumanMethylation450k array and compared their profiles with those from groups of individuals with classic WBS or classic Dup7 and with typically developing (TD) controls. Across the top 1000 most variable positions we found that only the atypical rearrangements that changed the copy number of GTF2IRD1 and/or GTF2I (coding for the TFII-IRD1 and TFII-I proteins) clustered with their respective syndromic cohorts. This finding was supported by results from hierarchical clustering across a selection of differentially methylated CpGs, in addition to pyrosequencing validation. These findings suggest that CNV of the GTF2I genes at the telomeric end of the 7q11.23 interval is a key contributor to the large changes in DNA methylation that are seen in blood DNA from our WBS and Dup7 cohorts, compared to TD controls. Our findings suggest that members of the TFII-I protein family are involved in epigenetic processes that alter DNA methylation on a genome-wide level.
Language	English
Publishing date	2023-09-14
Publishing country	England
Document type	Journal Article
ZDB-ID	2813848-X
ISSN	2056-7944 ; 2056-7944
ISSN (online)	2056-7944
ISSN	2056-7944
DOI	10.1038/s41525-023-00368-7
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Article ; Online: Animal models of Williams syndrome.

Osborne, Lucy R

American journal of medical genetics. Part C, Seminars in medical genetics

2010 Volume 154C, Issue 2, Page(s) 209–219

Abstract: In recent years, researchers have generated a variety of mouse models in an attempt to dissect the contribution of individual genes to the complex phenotype associated with Williams syndrome (WS). The mouse genome is easily manipulated to produce animals ...

Abstract	In recent years, researchers have generated a variety of mouse models in an attempt to dissect the contribution of individual genes to the complex phenotype associated with Williams syndrome (WS). The mouse genome is easily manipulated to produce animals that are copies of humans with genetic conditions, be it with null mutations, hypomorphic mutations, point mutations, or even large deletions encompassing many genes. The existing mouse models certainly seem to implicate hemizygosity for ELN, BAZ1B, CLIP2, and GTF2IRD1 in WS, and new mice with large deletions of the WS region are helping us to understand both the additive and potential combinatorial effects of hemizygosity for specific genes. However, not all genes that are haploinsufficient in humans prove to be so in mice and the effect of genetic background can also have a significant effect on the penetrance of many phenotypes. Thus although mouse models are powerful tools, the information garnered from their study must be carefully interpreted. Nevertheless, mouse models look set to provide a wealth of information about the neuroanatomy, neurophysiology and molecular pathways that underlie WS and in the future will act as essential tools for the development and testing of therapeutics.
MeSH term(s)	Animals ; Disease Models, Animal ; Gene Deletion ; Genetic Association Studies ; Humans ; Mice ; Williams Syndrome/genetics
Language	English
Publishing date	2010-04-28
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.30257
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Article ; Online: Caveat mTOR: aberrant signaling disrupts corticogenesis.

Osborne, Lucy R

The Journal of clinical investigation

2010 Volume 120, Issue 5, Page(s) 1392–1395

Abstract: The mammalian target of rapamycin (mTOR) signaling pathway is activated in several disorders associated with benign tumors and malformations of the cerebral cortex. In this issue of the JCI, Orlova et al. have now definitively added another disorder to ... ...

Abstract	The mammalian target of rapamycin (mTOR) signaling pathway is activated in several disorders associated with benign tumors and malformations of the cerebral cortex. In this issue of the JCI, Orlova et al. have now definitively added another disorder to this group by demonstrating that activation of mTOR signaling is associated with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE), which is characterized by severe intractable epilepsy and megalencephaly. PMSE is caused by lack of the pseudokinase STE20-related kinase adaptor alpha (STRADalpha), and Orlova et al. show that reduction of STRADalpha levels during corticogenesis in the mouse results in a cellular phenotype and neuronal migration defects similar to those observed in patients with PMSE, clearly demonstrating a pivotal role for STRADalpha in cell polarity and growth. This study helps pave the way for possible therapeutic intervention with rapamycin to control the epilepsy and learning disabilities associated with this disorder.
MeSH term(s)	Adaptor Proteins, Vesicular Transport/metabolism ; Animals ; Brain/metabolism ; Cell Movement ; Epilepsy/metabolism ; Gene Expression Regulation ; Humans ; Intracellular Signaling Peptides and Proteins/metabolism ; Learning Disabilities/metabolism ; Mice ; Mice, Knockout ; Models, Biological ; Neurons/metabolism ; Phenotype ; Protein Kinases/metabolism ; Protein-Serine-Threonine Kinases/metabolism ; Signal Transduction ; TOR Serine-Threonine Kinases
Chemical Substances	Adaptor Proteins, Vesicular Transport ; Intracellular Signaling Peptides and Proteins ; STRAD protein, mouse ; Protein Kinases (EC 2.7.-) ; sterile 20-like protein kinase nerve injury-associated kinase (EC 2.7.1.-) ; MTOR protein, human (EC 2.7.1.1) ; TOR Serine-Threonine Kinases (EC 2.7.1.1) ; mTOR protein, mouse (EC 2.7.1.1) ; Protein-Serine-Threonine Kinases (EC 2.7.11.1)
Language	English
Publishing date	2010-04-26
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Comment
ZDB-ID	3067-3
ISSN	1558-8238 ; 0021-9738
ISSN (online)	1558-8238
ISSN	0021-9738
DOI	10.1172/JCI43030
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Article ; Online: Genomic rearrangements in the spotlight.

Osborne, Lucy R

Nature genetics

2008 Volume 40, Issue 1, Page(s) 6–7

MeSH term(s)	Chromosome Deletion ; Genetic Diseases, Inborn/genetics ; Germ Cells/metabolism ; Humans ; Male ; Meiosis
Language	English
Publishing date	2008-01
Publishing country	United States
Document type	Comment ; News
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/ng0108-6
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Article ; Online: Williams syndrome.

Kozel, Beth A / Barak, Boaz / Kim, Chong Ae / Mervis, Carolyn B / Osborne, Lucy R / Porter, Melanie / Pober, Barbara R

Nature reviews. Disease primers

2021 Volume 7, Issue 1, Page(s) 42

Abstract: Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as 1:7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at meiosis. The deletion size is similar across most individuals with WS ...

Abstract	Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as 1:7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at meiosis. The deletion size is similar across most individuals with WS and leads to the loss of one copy of 25-27 genes on chromosome 7q11.23. The resulting unique disorder affects multiple systems, with cardinal features including but not limited to cardiovascular disease (characteristically stenosis of the great arteries and most notably supravalvar aortic stenosis), a distinctive craniofacial appearance, and a specific cognitive and behavioural profile that includes intellectual disability and hypersociability. Genotype-phenotype evidence is strongest for ELN, the gene encoding elastin, which is responsible for the vascular and connective tissue features of WS, and for the transcription factor genes GTF2I and GTF2IRD1, which are known to affect intellectual ability, social functioning and anxiety. Mounting evidence also ascribes phenotypic consequences to the deletion of BAZ1B, LIMK1, STX1A and MLXIPL, but more work is needed to understand the mechanism by which these deletions contribute to clinical outcomes. The age of diagnosis has fallen in regions of the world where technological advances, such as chromosomal microarray, enable clinicians to make the diagnosis of WS without formally suspecting it, allowing earlier intervention by medical and developmental specialists. Phenotypic variability is considerable for all cardinal features of WS but the specific sources of this variability remain unknown. Further investigation to identify the factors responsible for these differences may lead to mechanism-based rather than symptom-based therapies and should therefore be a high research priority.
MeSH term(s)	Cognition ; Elastin ; Humans ; Transcription Factors ; Williams Syndrome/diagnosis ; Williams Syndrome/genetics
Chemical Substances	BAZ1B protein, human ; Transcription Factors ; Elastin (9007-58-3)
Language	English
Publishing date	2021-06-17
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Review
ISSN	2056-676X
ISSN (online)	2056-676X
DOI	10.1038/s41572-021-00276-z
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Article ; Online: Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.

Qaiser, Farah / Yin, Yue / Mervis, Carolyn B / Morris, Colleen A / Klein-Tasman, Bonita P / Tam, Elaine / Osborne, Lucy R / Yuen, Ryan K C

Orphanet journal of rare diseases

2021 Volume 16, Issue 1, Page(s) 6

Abstract: Background: 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggesting that ... ...

Abstract	Background: 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggesting that additional genetic factors are necessary to manifest the ASD phenotype. To assess the contribution of additional genetic variants to the Dup7 phenotype, we conducted whole-genome sequencing analysis of 20 Dup7 carriers: nine with ASD (Dup7-ASD) and 11 without ASD (Dup7-non-ASD). Results: We identified three rare variants of potential clinical relevance for ASD: a 1q21.1 microdeletion (Dup7-non-ASD) and two deletions which disrupted IMMP2L (one Dup7-ASD, one Dup7-non-ASD). There were no significant differences in gene-set or pathway variant burden between the Dup7-ASD and Dup7-non-ASD groups. However, overall intellectual ability negatively correlated with the number of rare loss-of-function variants present in nervous system development and membrane component pathways, and adaptive behaviour standard scores negatively correlated with the number of low-frequency likely-damaging missense variants found in genes expressed in the prenatal human brain. ASD severity positively correlated with the number of low frequency loss-of-function variants impacting genes expressed at low levels in the brain, and genes with a low level of intolerance. Conclusions: Our study suggests that in the presence of the same pathogenic Dup7 variant, rare and low frequency genetic variants act additively to contribute to components of the overall Dup7 phenotype.
MeSH term(s)	Autism Spectrum Disorder/genetics ; Chromosome Deletion ; DNA Copy Number Variations/genetics ; Female ; Genomics ; Humans ; Phenotype ; Pregnancy
Language	English
Publishing date	2021-01-06
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-020-01648-6
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Article ; Online: Coping with uncertainty in everyday situations (CUES©) to address intolerance of uncertainty in autistic children: an intervention feasibility trial.

Rodgers, Jacqui / Goodwin, Jane / Garland, Deborah / Grahame, Victoria / Isard, Lucy / Kernohan, Ashleigh / Labus, Marie / Osborne, Mr Malcolm / Parr, Jeremy R / Rob, Priyanka / Wright, Catharine / Freeston, Mark

Journal of autism and developmental disorders

2022 Volume 53, Issue 9, Page(s) 3460–3474

Abstract: Background: Anxiety related to uncertainty is common in autism. Coping with Uncertainty in Everyday Situations (CUES©) is a parent-mediated group intervention aiming to increase autistic children's tolerance to uncertain situations. A pilot study was ... ...

Abstract	Background: Anxiety related to uncertainty is common in autism. Coping with Uncertainty in Everyday Situations (CUES©) is a parent-mediated group intervention aiming to increase autistic children's tolerance to uncertain situations. A pilot study was conducted to test its feasibility and acceptability. Methods: Parents of 50 autistic children were randomised to receive CUES© or enhanced services as usual. Results: All children met the clinical threshold for at least one anxiety disorder. Of the 26 participants randomised to CUES©, 72% attended 4-8 sessions. Parents and therapists reported they found CUES© useful and acceptable. Conclusions: Families were willing to be recruited and randomised, the format/content was feasible to deliver, and the outcome measures were acceptable. CUES© should be evaluated in a clinical and cost effectiveness randomised controlled trial.
MeSH term(s)	Humans ; Child ; Autistic Disorder ; Uncertainty ; Pilot Projects ; Feasibility Studies ; Autism Spectrum Disorder ; Adaptation, Psychological
Language	English
Publishing date	2022-07-05
Publishing country	United States
Document type	Randomized Controlled Trial ; Journal Article
ZDB-ID	391999-7
ISSN	1573-3432 ; 0162-3257
ISSN (online)	1573-3432
ISSN	0162-3257
DOI	10.1007/s10803-022-05645-5
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Article ; Online: Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.

Liu, Delong / Billington, Charles J / Raja, Neelam / Wong, Zoe C / Levin, Mark D / Resch, Wulfgang / Alba, Camille / Hupalo, Daniel N / Biamino, Elisa / Bedeschi, Maria Francesca / Digilio, Maria Cristina / Squeo, Gabriella Maria / Villa, Roberta / Parrish, Pheobe C R / Knutsen, Russell H / Osgood, Sharon / Freeman, Joy A / Dalgard, Clifton L / Merla, Giuseppe /

Pober, Barbara R / Mervis, Carolyn B / Roberts, Amy E / Morris, Colleen A / Osborne, Lucy R / Kozel, Beth A

Journal of the American Heart Association

2024 Volume 13, Issue 3, Page(s) e031377

Abstract: Background: Supravalvar aortic stenosis (SVAS) is a characteristic feature of Williams-Beuren syndrome (WBS). Its severity varies: ~20% of people with Williams-Beuren syndrome have SVAS requiring surgical intervention, whereas ~35% have no appreciable ... ...

Abstract	Background: Supravalvar aortic stenosis (SVAS) is a characteristic feature of Williams-Beuren syndrome (WBS). Its severity varies: ~20% of people with Williams-Beuren syndrome have SVAS requiring surgical intervention, whereas ~35% have no appreciable SVAS. The remaining individuals have SVAS of intermediate severity. Little is known about genetic modifiers that contribute to this variability. Methods and results: We performed genome sequencing on 473 individuals with Williams-Beuren syndrome and developed strategies for modifier discovery in this rare disease population. Approaches include extreme phenotyping and nonsynonymous variant prioritization, followed by gene set enrichment and pathway-level association tests. We next used GTEx v8 and proteomic data sets to verify expression of candidate modifiers in relevant tissues. Finally, we evaluated overlap between the genes/pathways identified here and those ascertained through larger aortic disease/trait genome-wide association studies. We show that SVAS severity in Williams-Beuren syndrome is associated with increased frequency of common and rarer variants in matrisome and immune pathways. Two implicated matrisome genes ( Conclusions: Smaller sample sizes in rare disease studies necessitate new approaches to detect modifiers. Our strategies identified variation in matrisome and immune pathways that are associated with SVAS severity. These findings suggest that, like other aortopathies, SVAS may be influenced by the balance of synthesis and degradation of matrisome proteins. Leveraging multiomic data and results from larger aorta-focused genome-wide association studies may accelerate modifier discovery for rare aortopathies like SVAS.
MeSH term(s)	Humans ; Williams Syndrome/genetics ; Genome-Wide Association Study ; Proteomics ; Rare Diseases ; Aortic Stenosis, Supravalvular/genetics ; Aortic Stenosis, Supravalvular/metabolism ; Aortic Stenosis, Supravalvular/surgery
Language	English
Publishing date	2024-01-31
Publishing country	England
Document type	Journal Article
ZDB-ID	2653953-6
ISSN	2047-9980 ; 2047-9980
ISSN (online)	2047-9980
ISSN	2047-9980
DOI	10.1161/JAHA.123.031377
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Article ; Online: Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype

Farah Qaiser / Yue Yin / Carolyn B. Mervis / Colleen A. Morris / Bonita P. Klein-Tasman / Elaine Tam / Lucy R. Osborne / Ryan K. C. Yuen

Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

2021 Volume 11

Abstract: Abstract Background 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggesting ... ...

Abstract	Abstract Background 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggesting that additional genetic factors are necessary to manifest the ASD phenotype. To assess the contribution of additional genetic variants to the Dup7 phenotype, we conducted whole-genome sequencing analysis of 20 Dup7 carriers: nine with ASD (Dup7-ASD) and 11 without ASD (Dup7-non-ASD). Results We identified three rare variants of potential clinical relevance for ASD: a 1q21.1 microdeletion (Dup7-non-ASD) and two deletions which disrupted IMMP2L (one Dup7-ASD, one Dup7-non-ASD). There were no significant differences in gene-set or pathway variant burden between the Dup7-ASD and Dup7-non-ASD groups. However, overall intellectual ability negatively correlated with the number of rare loss-of-function variants present in nervous system development and membrane component pathways, and adaptive behaviour standard scores negatively correlated with the number of low-frequency likely-damaging missense variants found in genes expressed in the prenatal human brain. ASD severity positively correlated with the number of low frequency loss-of-function variants impacting genes expressed at low levels in the brain, and genes with a low level of intolerance. Conclusions Our study suggests that in the presence of the same pathogenic Dup7 variant, rare and low frequency genetic variants act additively to contribute to components of the overall Dup7 phenotype.
Keywords	7q11.23 duplication syndrome ; Autism spectrum disorder ; Phenotypic variability ; Single nucleotide variant ; Copy number variant ; Whole genome sequencing ; Medicine ; R
Subject code	572
Language	English
Publishing date	2021-01-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
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