Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency Article Swipe
Viola Alesi
,
Silvia Genovese
,
Maria Cristina Roberti
,
Ester Sallicandro
,
Silvia Di Tommaso
,
Sara Loddo
,
Valeria Orlando
,
Dario Pompili
,
Chiara Calacci
,
van der Henny C. Mei
,
Elisa Pisaneschi
,
Maria Vittoria Faggiano
,
Alessandra Morgia
,
Corrado Mammì
,
Guja Astrea
,
Roberta Battini
,
Manuela Priolo
,
Maria Lisa Dentici
,
Roberta Milone
,
Antonio Novelli
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1186/s40246-024-00600-0
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1186/s40246-024-00600-0
Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and loss. Evaluating the precise breakpoint is crucial from a diagnostic point of view, highlighting possible gene disruption and addressing to appropriate genotype–phenotype association. Structural rearrangements can either occur randomly within the genome or present with a recurrence, mainly due to peculiar genomic features of the surrounding regions. We report about three non-related individuals, harboring chromosomal structural rearrangements interrupting SETBP1 , leading to gene haploinsufficiency. Two out of them resulted negative to Chromosomal Microarray Analysis (CMA), being the rearrangement balanced at a microarray resolution. The third one, presenting with a complex three-chromosome rearrangement, had been previously diagnosed with SETBP1 haploinsufficiency due to a partial gene deletion at one of the chromosomal breakpoints. We thoroughly characterized the rearrangements by means of Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS), providing details about the involved sequences and the underlying mechanisms. We propose structural variants as a recurrent event in SETBP1 haploinsufficiency, which may be overlooked by laboratory routine genomic analyses (CMA and Whole Exome Sequencing) or only partially determined when associated with genomic losses at breakpoints. We finally introduce a possible role of SETBP1 in a Noonan-like phenotype.
Related Topics
Concepts
Haploinsufficiency
Biology
Breakpoint
Genetics
Comparative genomic hybridization
Chromosomal rearrangement
Gene rearrangement
Genome
Human genetics
Exome sequencing
Computational biology
Whole genome sequencing
Chromothripsis
Copy-number variation
Gene
Chromosome
Phenotype
Karyotype
Genome instability
DNA
DNA damage
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1186/s40246-024-00600-0
- https://humgenomics.biomedcentral.com/counter/pdf/10.1186/s40246-024-00600-0
- OA Status
- gold
- Cited By
- 2
- References
- 34
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4393078942
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4393078942Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1186/s40246-024-00600-0Digital Object Identifier
- Title
-
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiencyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-03-22Full publication date if available
- Authors
-
Viola Alesi, Silvia Genovese, Maria Cristina Roberti, Ester Sallicandro, Silvia Di Tommaso, Sara Loddo, Valeria Orlando, Dario Pompili, Chiara Calacci, van der Henny C. Mei, Elisa Pisaneschi, Maria Vittoria Faggiano, Alessandra Morgia, Corrado Mammì, Guja Astrea, Roberta Battini, Manuela Priolo, Maria Lisa Dentici, Roberta Milone, Antonio NovelliList of authors in order
- Landing page
-
https://doi.org/10.1186/s40246-024-00600-0Publisher landing page
- PDF URL
-
https://humgenomics.biomedcentral.com/counter/pdf/10.1186/s40246-024-00600-0Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://humgenomics.biomedcentral.com/counter/pdf/10.1186/s40246-024-00600-0Direct OA link when available
- Concepts
-
Haploinsufficiency, Biology, Breakpoint, Genetics, Comparative genomic hybridization, Chromosomal rearrangement, Gene rearrangement, Genome, Human genetics, Exome sequencing, Computational biology, Whole genome sequencing, Chromothripsis, Copy-number variation, Gene, Chromosome, Phenotype, Karyotype, Genome instability, DNA, DNA damageTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
2Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 2Per-year citation counts (last 5 years)
- References (count)
-
34Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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