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Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος: Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis.
Συγγραφείς: Di Iorio MR; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy., La Monica I; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy., Imperatore A; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy., Sica A; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy., Iorio V; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy., Pastore L; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy., Lombardo B; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.
Πηγή: International journal of molecular sciences [Int J Mol Sci] 2026 Aug 20; Vol. 27 (16). Date of Electronic Publication: 2026 Aug 20.
Τύπος έκδοσης: Journal Article
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Imprint Name(s): Original Publication: Basel, Switzerland : MDPI, [2000-
Ιατρικοί όροι (MeSH): DNA Copy Number Variations*/genetics , Autism Spectrum Disorder*/genetics, Humans ; Comparative Genomic Hybridization ; Female ; Male ; Child ; Phenotype ; Child, Preschool ; Genetic Predisposition to Disease ; Retrospective Studies ; Adolescent
Περίληψη: Autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDDs) are characterized by a complex genetic architecture involving both rare high-impact variants and cumulative low-effect alterations. The contribution of borderline copy number variants (CNVs) to disease susceptibility and phenotypic variability remains incompletely understood. Reflecting a real-world clinical setting rather than a prospectively recruited research cohort, we performed a retrospective analysis of a tertiary care registry comprising 328 individuals referred for suspected ASD or NDDs who underwent array comparative genomic hybridization (a-CGH), identifying 612 CNVs classified according to ACMG/ClinGen guidelines. CNVs were evaluated by type, size, genomic distribution, and clinical correlation, and patients were stratified based on CNV burden and the presence of borderline variants. Duplications were more frequent than deletions, and medium-sized CNVs (100-500 kb) were the most common. Borderline CNVs represented the largest category. Within this descriptive cohort, increased CNV burden, in both number and cumulative genomic size, co-occurred more frequently in individuals with severe phenotypes, including ASD with intellectual disability, epilepsy, and broader NDDs. Individuals with isolated ASD showed a lower burden and enrichment of small borderline variants, which often co-occurred alongside CNVs. In contrast, severe phenotypes were frequently associated with single large pathogenic variants. Recurrent loci included 15q11.2-q13, 16p11.2, and 22q11.21. Overall, these exploratory observations from a real-world clinical registry illustrate how cumulative genomic burden and borderline CNVs co-occur across different neurodevelopmental presentations, providing descriptive context for future mechanistic studies.
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Genet Med. 2020 Feb;22(2):245-257. (PMID: 31690835)
Lancet Neurol. 2015 Nov;14(11):1109-20. (PMID: 25891009)
Genes (Basel). 2026 Feb 21;17(2):. (PMID: 41751631)
N Engl J Med. 2015 Jun 4;372(23):2235-42. (PMID: 26014595)
Lancet. 2018 Aug 11;392(10146):508-520. (PMID: 30078460)
Nature. 2010 Jul 15;466(7304):368-72. (PMID: 20531469)
Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):790-6. (PMID: 26953189)
Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92. (PMID: 24174537)
Front Genet. 2018 Dec 12;9:626. (PMID: 30631341)
Genome Res. 2006 Aug;16(8):949-61. (PMID: 16809666)
Int J Mol Sci. 2025 Apr 23;26(9):. (PMID: 40362210)
PLoS Genet. 2011 Nov;7(11):e1002334. (PMID: 22102821)
Nat Genet. 2014 Aug;46(8):881-5. (PMID: 25038753)
Curr Protoc Bioinformatics. 2016 Jun 20;54:1.30.1-1.30.33. (PMID: 27322403)
Neuron. 2011 Jun 9;70(5):863-85. (PMID: 21658581)
Psychiatry Clin Neurosci. 2026 Mar;80(3):166-179. (PMID: 41432124)
J Neurodev Disord. 2014;6(1):17. (PMID: 25050139)
Annu Rev Genomics Hum Genet. 2023 Aug 25;24:151-176. (PMID: 37285546)
Transl Psychiatry. 2013 Dec 03;3:e329. (PMID: 24301647)
Nat Genet. 2019 Mar;51(3):431-444. (PMID: 30804558)
Genes (Basel). 2025 Apr 23;16(5):. (PMID: 40428300)
Clin Chem Lab Med. 2019 Mar 26;57(4):e63-e66. (PMID: 30207287)
Neuron. 2011 Jun 9;70(5):886-97. (PMID: 21658582)
Nat Rev Genet. 2015 Mar;16(3):172-83. (PMID: 25645873)
Medicina (Kaunas). 2022 Apr 07;58(4):. (PMID: 35454361)
Nat Commun. 2017 Feb 08;8:14366. (PMID: 28176757)
J Appl Genet. 2011 Nov;52(4):443-9. (PMID: 21931978)
Transl Psychiatry. 2020 Jun 22;10(1):204. (PMID: 32572023)
Hum Mol Genet. 2010 Oct 15;19(R2):R176-87. (PMID: 20807775)
Front Genet. 2021 Sep 21;12:732002. (PMID: 34621295)
J Autism Dev Disord. 2018 Aug;48(8):2886-2889. (PMID: 29589274)
Genome Biol. 2017 Mar 6;18(1):36. (PMID: 28260531)
Am J Hum Genet. 2008 Feb;82(2):477-88. (PMID: 18252227)
Nat Genet. 2017 Jul;49(7):978-985. (PMID: 28504703)
Front Psychiatry. 2023 Oct 10;14:1238797. (PMID: 38025444)
Cell. 2015 Jul 16;162(2):375-390. (PMID: 26186191)
Genet Med. 2023 Oct;25(10):100919. (PMID: 37330697)
J Mol Diagn. 2022 Oct;24(10):1100-1111. (PMID: 35868509)
Clin Genet. 2012 May;81(5):403-12. (PMID: 22097934)
Nature. 2017 May 4;545(7652):48-53. (PMID: 28445462)
Hum Mutat. 2000;15(1):57-61. (PMID: 10612823)
Nat Genet. 2010 Mar;42(3):203-9. (PMID: 20154674)
Nature. 2014 Nov 13;515(7526):209-15. (PMID: 25363760)
Am J Hum Genet. 2016 Jan 7;98(1):45-57. (PMID: 26749307)
Hum Mol Genet. 2011 Sep 1;20(17):3366-75. (PMID: 21624971)
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Mol Psychiatry. 2013 Oct;18(10):1090-5. (PMID: 23044707)
Genet Med. 2011 Sep;13(9):777-84. (PMID: 21844811)
Nat Commun. 2019 Oct 25;10(1):4897. (PMID: 31653860)
Hum Mol Genet. 2006 Apr 15;15 Spec No 1:R57-66. (PMID: 16651370)
Nucleic Acids Res. 2014 Jan;42(Database issue):D980-5. (PMID: 24234437)
Genet Med. 2013 May;15(5):399-407. (PMID: 23519317)
Nat Genet. 2014 Oct;46(10):1063-71. (PMID: 25217958)
Genes (Basel). 2024 Mar 28;15(4):. (PMID: 38674362)
Mol Psychiatry. 2015 Nov;20(11):1350-65. (PMID: 25385366)
Front Cell Neurosci. 2019 Aug 20;13:385. (PMID: 31481879)
Cell. 2020 Feb 6;180(3):568-584.e23. (PMID: 31981491)
Curr Opin Neurobiol. 2012 Oct;22(5):829-36. (PMID: 22560351)
Contributed Indexing: Keywords: CNV burden; array comparative genomic hybridization; autism spectrum disorders; copy number variants
Entry Date(s): Date Created: 20260827 Date Completed: 20260827 Latest Revision: 20260829
Update Code: 20260829
PubMed Central ID: PMC13513768
DOI: 10.3390/ijms27167434
PMID: 42653435
Βάση Δεδομένων: MEDLINE
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  Data: Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis.
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  Data: <searchLink fieldCode="AU" term="%22Di+Iorio+MR%22">Di Iorio MR</searchLink>; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22La+Monica+I%22">La Monica I</searchLink>; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Imperatore+A%22">Imperatore A</searchLink>; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Sica+A%22">Sica A</searchLink>; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Iorio+V%22">Iorio V</searchLink>; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Pastore+L%22">Pastore L</searchLink>; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Lombardo+B%22">Lombardo B</searchLink>; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.
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  Data: <searchLink fieldCode="MM" term="%22DNA+Copy+Number+Variations%22">DNA Copy Number Variations*</searchLink>/<searchLink fieldCode="MM" term="%22DNA+Copy+Number+Variations+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22Autism+Spectrum+Disorder%22">Autism Spectrum Disorder*</searchLink>/<searchLink fieldCode="MM" term="%22Autism+Spectrum+Disorder+genetics%22">genetics</searchLink><br /><searchLink fieldCode="MH" term="%22Humans%22">Humans</searchLink> ; <searchLink fieldCode="MH" term="%22Comparative+Genomic+Hybridization%22">Comparative Genomic Hybridization</searchLink> ; <searchLink fieldCode="MH" term="%22Female%22">Female</searchLink> ; <searchLink fieldCode="MH" term="%22Male%22">Male</searchLink> ; <searchLink fieldCode="MH" term="%22Child%22">Child</searchLink> ; <searchLink fieldCode="MH" term="%22Phenotype%22">Phenotype</searchLink> ; <searchLink fieldCode="MH" term="%22Child%2C+Preschool%22">Child, Preschool</searchLink> ; <searchLink fieldCode="MH" term="%22Genetic+Predisposition+to+Disease%22">Genetic Predisposition to Disease</searchLink> ; <searchLink fieldCode="MH" term="%22Retrospective+Studies%22">Retrospective Studies</searchLink> ; <searchLink fieldCode="MH" term="%22Adolescent%22">Adolescent</searchLink>
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  Data: Autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDDs) are characterized by a complex genetic architecture involving both rare high-impact variants and cumulative low-effect alterations. The contribution of borderline copy number variants (CNVs) to disease susceptibility and phenotypic variability remains incompletely understood. Reflecting a real-world clinical setting rather than a prospectively recruited research cohort, we performed a retrospective analysis of a tertiary care registry comprising 328 individuals referred for suspected ASD or NDDs who underwent array comparative genomic hybridization (a-CGH), identifying 612 CNVs classified according to ACMG/ClinGen guidelines. CNVs were evaluated by type, size, genomic distribution, and clinical correlation, and patients were stratified based on CNV burden and the presence of borderline variants. Duplications were more frequent than deletions, and medium-sized CNVs (100-500 kb) were the most common. Borderline CNVs represented the largest category. Within this descriptive cohort, increased CNV burden, in both number and cumulative genomic size, co-occurred more frequently in individuals with severe phenotypes, including ASD with intellectual disability, epilepsy, and broader NDDs. Individuals with isolated ASD showed a lower burden and enrichment of small borderline variants, which often co-occurred alongside CNVs. In contrast, severe phenotypes were frequently associated with single large pathogenic variants. Recurrent loci included 15q11.2-q13, 16p11.2, and 22q11.21. Overall, these exploratory observations from a real-world clinical registry illustrate how cumulative genomic burden and borderline CNVs co-occur across different neurodevelopmental presentations, providing descriptive context for future mechanistic studies.
– Name: Ref
  Label: References
  Group: RefInfo
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  Data: <i>Keywords: </i>CNV burden; array comparative genomic hybridization; autism spectrum disorders; copy number variants
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  Data: <i>Date Created: </i>20260827 <i>Date Completed: </i>20260827 <i>Latest Revision: </i>20260829
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– Name: DOI
  Label: DOI
  Group: ID
  Data: 10.3390/ijms27167434
– Name: AN
  Label: PMID
  Group: ID
  Data: 42653435
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=cmedm&AN=42653435
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.3390/ijms27167434
    Languages:
      – Code: eng
        Text: English
    Subjects:
      – SubjectFull: Humans
        Type: general
      – SubjectFull: Comparative Genomic Hybridization
        Type: general
      – SubjectFull: Female
        Type: general
      – SubjectFull: Male
        Type: general
      – SubjectFull: Child
        Type: general
      – SubjectFull: Phenotype
        Type: general
      – SubjectFull: Child, Preschool
        Type: general
      – SubjectFull: Genetic Predisposition to Disease
        Type: general
      – SubjectFull: Retrospective Studies
        Type: general
      – SubjectFull: Adolescent
        Type: general
      – SubjectFull: DNA Copy Number Variations genetics
        Type: general
      – SubjectFull: Autism Spectrum Disorder genetics
        Type: general
    Titles:
      – TitleFull: Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Di Iorio MR
      – PersonEntity:
          Name:
            NameFull: La Monica I
      – PersonEntity:
          Name:
            NameFull: Imperatore A
      – PersonEntity:
          Name:
            NameFull: Sica A
      – PersonEntity:
          Name:
            NameFull: Iorio V
      – PersonEntity:
          Name:
            NameFull: Pastore L
      – PersonEntity:
          Name:
            NameFull: Lombardo B
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 20
              M: 08
              Text: 2026 Aug 20
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1422-0067
          Numbering:
            – Type: volume
              Value: 27
            – Type: issue
              Value: 16
          Titles:
            – TitleFull: International journal of molecular sciences
              Type: main
ResultId 1