Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs Article Swipe
Martina Servetti
,
Livia Pisciotta
,
Elisa Tassano
,
Maria Cerminara
,
Lino Nobili
,
Silvia Boeri
,
Giulia Rosti
,
Margherita Lerone
,
Maria Teresa Divizia
,
Patrizia Ronchetto
,
Aldamaria Puliti
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.3389/fgene.2021.732002
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.3389/fgene.2021.732002
Neurodevelopmental disorders (NDDs) are a heterogeneous class of brain diseases, with a complex genetic basis estimated to account for up to 50% of cases. Nevertheless, genetic diagnostic yield is about 20%. Array-comparative genomic hybridization (array-CGH) is an established first-level diagnostic test able to detect pathogenic copy number variants (CNVs), however, most identified variants remain of uncertain significance (VUS). Failure of interpretation of VUSs may depend on various factors, including complexity of clinical phenotypes and inconsistency of genotype-phenotype correlations. Indeed, although most NDD-associated CNVs are de novo , transmission from unaffected parents to affected children of CNVs with high risk for NDDs has been observed. Moreover, variability of genetic components overlapped by CNVs, such as long non-coding genes, genomic regions with long-range effects, and additive effects of multiple CNVs can make CNV interpretation challenging. We report on 12 patients with complex phenotypes possibly explained by complex genetic mechanisms, including involvement of antisense genes and boundaries of topologically associating domains. Eight among the 12 patients carried two CNVs, either de novo or inherited, respectively, by each of their healthy parents, that could additively contribute to the patients’ phenotype. CNVs overlapped either known NDD-associated or novel candidate genes ( PTPRD , BUD13 , GLRA3, MIR4465, ABHD4, and WSCD2 ). Bioinformatic enrichment analyses showed that genes overlapped by the co-occurring CNVs have synergistic roles in biological processes fundamental in neurodevelopment. Double CNVs could concur in producing deleterious effects, according to a two-hit model, thus explaining the patients’ phenotypes and the incomplete penetrance, and variable expressivity, associated with the single variants. Overall, our findings could contribute to the knowledge on clinical and genetic diagnosis of complex forms of NDD.
Related Topics
Concepts
Copy-number variation
Penetrance
Phenotype
Genetics
Biology
Gene
Comparative genomic hybridization
Genotype-phenotype distinction
Expressivity
Candidate gene
Genetic heterogeneity
Genome
Computational biology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fgene.2021.732002
- https://www.frontiersin.org/articles/10.3389/fgene.2021.732002/pdf
- OA Status
- gold
- Cited By
- 23
- References
- 72
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3200603419
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3200603419Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3389/fgene.2021.732002Digital Object Identifier
- Title
-
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-09-21Full publication date if available
- Authors
-
Martina Servetti, Livia Pisciotta, Elisa Tassano, Maria Cerminara, Lino Nobili, Silvia Boeri, Giulia Rosti, Margherita Lerone, Maria Teresa Divizia, Patrizia Ronchetto, Aldamaria PulitiList of authors in order
- Landing page
-
https://doi.org/10.3389/fgene.2021.732002Publisher landing page
- PDF URL
-
https://www.frontiersin.org/articles/10.3389/fgene.2021.732002/pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://www.frontiersin.org/articles/10.3389/fgene.2021.732002/pdfDirect OA link when available
- Concepts
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Copy-number variation, Penetrance, Phenotype, Genetics, Biology, Gene, Comparative genomic hybridization, Genotype-phenotype distinction, Expressivity, Candidate gene, Genetic heterogeneity, Genome, Computational biologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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23Total citation count in OpenAlex
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2025: 6, 2024: 5, 2023: 6, 2022: 5, 2021: 1Per-year citation counts (last 5 years)
- References (count)
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72Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.BUD13 | 198 |
| abstract_inverted_index.CNVs, | 111, 165 |
| abstract_inverted_index.Eight | 158 |
| abstract_inverted_index.PTPRD | 196 |
| abstract_inverted_index.WSCD2 | 204 |
| abstract_inverted_index.about | 29 |
| abstract_inverted_index.among | 159 |
| abstract_inverted_index.basis | 14 |
| abstract_inverted_index.brain | 8 |
| abstract_inverted_index.class | 6 |
| abstract_inverted_index.could | 179, 228, 259 |
| abstract_inverted_index.forms | 271 |
| abstract_inverted_index.genes | 151, 194, 211 |
| abstract_inverted_index.known | 189 |
| abstract_inverted_index.novel | 192 |
| abstract_inverted_index.roles | 219 |
| abstract_inverted_index.their | 175 |
| abstract_inverted_index.yield | 27 |
| abstract_inverted_index.(NDDs) | 2 |
| abstract_inverted_index.(VUS). | 57 |
| abstract_inverted_index.ABHD4, | 202 |
| abstract_inverted_index.Double | 226 |
| abstract_inverted_index.GLRA3, | 200 |
| abstract_inverted_index.cases. | 23 |
| abstract_inverted_index.concur | 229 |
| abstract_inverted_index.depend | 64 |
| abstract_inverted_index.detect | 43 |
| abstract_inverted_index.either | 166, 188 |
| abstract_inverted_index.genes, | 116 |
| abstract_inverted_index.model, | 238 |
| abstract_inverted_index.number | 46 |
| abstract_inverted_index.remain | 53 |
| abstract_inverted_index.report | 134 |
| abstract_inverted_index.showed | 209 |
| abstract_inverted_index.single | 254 |
| abstract_inverted_index.(CNVs), | 48 |
| abstract_inverted_index.Failure | 58 |
| abstract_inverted_index.Indeed, | 78 |
| abstract_inverted_index.account | 17 |
| abstract_inverted_index.carried | 163 |
| abstract_inverted_index.complex | 12, 139, 144, 270 |
| abstract_inverted_index.effects | 124 |
| abstract_inverted_index.genetic | 13, 25, 107, 145, 267 |
| abstract_inverted_index.genomic | 32, 117 |
| abstract_inverted_index.healthy | 176 |
| abstract_inverted_index.parents | 90 |
| abstract_inverted_index.regions | 118 |
| abstract_inverted_index.two-hit | 237 |
| abstract_inverted_index.various | 66 |
| abstract_inverted_index.MIR4465, | 201 |
| abstract_inverted_index.Overall, | 256 |
| abstract_inverted_index.additive | 123 |
| abstract_inverted_index.affected | 92 |
| abstract_inverted_index.although | 79 |
| abstract_inverted_index.analyses | 208 |
| abstract_inverted_index.children | 93 |
| abstract_inverted_index.clinical | 71, 265 |
| abstract_inverted_index.domains. | 157 |
| abstract_inverted_index.effects, | 121, 233 |
| abstract_inverted_index.factors, | 67 |
| abstract_inverted_index.findings | 258 |
| abstract_inverted_index.however, | 49 |
| abstract_inverted_index.multiple | 126 |
| abstract_inverted_index.parents, | 177 |
| abstract_inverted_index.patients | 137, 162 |
| abstract_inverted_index.possibly | 141 |
| abstract_inverted_index.variable | 249 |
| abstract_inverted_index.variants | 47, 52 |
| abstract_inverted_index.Moreover, | 104 |
| abstract_inverted_index.according | 234 |
| abstract_inverted_index.antisense | 150 |
| abstract_inverted_index.candidate | 193 |
| abstract_inverted_index.diagnosis | 268 |
| abstract_inverted_index.diseases, | 9 |
| abstract_inverted_index.disorders | 1 |
| abstract_inverted_index.estimated | 15 |
| abstract_inverted_index.explained | 142 |
| abstract_inverted_index.including | 68, 147 |
| abstract_inverted_index.knowledge | 263 |
| abstract_inverted_index.observed. | 103 |
| abstract_inverted_index.processes | 222 |
| abstract_inverted_index.producing | 231 |
| abstract_inverted_index.uncertain | 55 |
| abstract_inverted_index.variants. | 255 |
| abstract_inverted_index.additively | 180 |
| abstract_inverted_index.associated | 251 |
| abstract_inverted_index.biological | 221 |
| abstract_inverted_index.boundaries | 153 |
| abstract_inverted_index.complexity | 69 |
| abstract_inverted_index.components | 108 |
| abstract_inverted_index.contribute | 181, 260 |
| abstract_inverted_index.diagnostic | 26, 39 |
| abstract_inverted_index.enrichment | 207 |
| abstract_inverted_index.explaining | 240 |
| abstract_inverted_index.identified | 51 |
| abstract_inverted_index.incomplete | 246 |
| abstract_inverted_index.inherited, | 170 |
| abstract_inverted_index.long-range | 120 |
| abstract_inverted_index.non-coding | 115 |
| abstract_inverted_index.overlapped | 109, 187, 212 |
| abstract_inverted_index.pathogenic | 44 |
| abstract_inverted_index.phenotype. | 185 |
| abstract_inverted_index.phenotypes | 72, 140, 243 |
| abstract_inverted_index.unaffected | 89 |
| abstract_inverted_index.(array-CGH) | 34 |
| abstract_inverted_index.associating | 156 |
| abstract_inverted_index.deleterious | 232 |
| abstract_inverted_index.established | 37 |
| abstract_inverted_index.first-level | 38 |
| abstract_inverted_index.fundamental | 223 |
| abstract_inverted_index.involvement | 148 |
| abstract_inverted_index.mechanisms, | 146 |
| abstract_inverted_index.patients’ | 184, 242 |
| abstract_inverted_index.penetrance, | 247 |
| abstract_inverted_index.synergistic | 218 |
| abstract_inverted_index.variability | 105 |
| abstract_inverted_index.challenging. | 132 |
| abstract_inverted_index.co-occurring | 215 |
| abstract_inverted_index.significance | 56 |
| abstract_inverted_index.transmission | 87 |
| abstract_inverted_index.Bioinformatic | 206 |
| abstract_inverted_index.Nevertheless, | 24 |
| abstract_inverted_index.correlations. | 77 |
| abstract_inverted_index.expressivity, | 250 |
| abstract_inverted_index.heterogeneous | 5 |
| abstract_inverted_index.hybridization | 33 |
| abstract_inverted_index.inconsistency | 74 |
| abstract_inverted_index.respectively, | 171 |
| abstract_inverted_index.topologically | 155 |
| abstract_inverted_index.NDD-associated | 81, 190 |
| abstract_inverted_index.interpretation | 60, 131 |
| abstract_inverted_index.Array-comparative | 31 |
| abstract_inverted_index.neurodevelopment. | 225 |
| abstract_inverted_index.Neurodevelopmental | 0 |
| abstract_inverted_index.genotype-phenotype | 76 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5058112945 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 11 |
| corresponding_institution_ids | https://openalex.org/I2801463291, https://openalex.org/I83816512 |
| citation_normalized_percentile.value | 0.91598202 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |