Genomic Copy Number Variations in the Autism Clinic—Work in Progress
The development of advanced technology for microarray-based chromosomal studies helped discover increased prevalence of genomic copy number variants (CNVs) in individuals with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is now an important tool for clinical investigations i...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2019-02-01
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| Series: | Frontiers in Cellular Neuroscience |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fncel.2019.00057/full |
| _version_ | 1818332694281453568 |
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| author | Milen Velinov |
| author_facet | Milen Velinov |
| author_sort | Milen Velinov |
| collection | DOAJ |
| description | The development of advanced technology for microarray-based chromosomal studies helped discover increased prevalence of genomic copy number variants (CNVs) in individuals with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is now an important tool for clinical investigations in patients with ASD. While this technology helps identify high proportion of CNV positive individuals among patients with autism, the clinical interpretation of such genomic rearrangements is often challenged by inconsistent genotype-phenotype correlations. Possible explanations of such inconsistencies may involve complex interactions of potentially pathogenic CNV with additional (secondary) CNVs or single nucleotide variants (SNVs). Other involved factors may include gender-specific effects or environmental contributions. Development of risk models for interpreting such complex interactions may be necessary in order to provide better informed genetic counseling to the affected families. |
| first_indexed | 2024-12-13T13:39:49Z |
| format | Article |
| id | doaj.art-d99b6e888cfa4db88352f99f2cd31d30 |
| institution | Directory Open Access Journal |
| issn | 1662-5102 |
| language | English |
| last_indexed | 2024-12-13T13:39:49Z |
| publishDate | 2019-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cellular Neuroscience |
| spelling | doaj.art-d99b6e888cfa4db88352f99f2cd31d302022-12-21T23:43:37ZengFrontiers Media S.A.Frontiers in Cellular Neuroscience1662-51022019-02-011310.3389/fncel.2019.00057418253Genomic Copy Number Variations in the Autism Clinic—Work in ProgressMilen VelinovThe development of advanced technology for microarray-based chromosomal studies helped discover increased prevalence of genomic copy number variants (CNVs) in individuals with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is now an important tool for clinical investigations in patients with ASD. While this technology helps identify high proportion of CNV positive individuals among patients with autism, the clinical interpretation of such genomic rearrangements is often challenged by inconsistent genotype-phenotype correlations. Possible explanations of such inconsistencies may involve complex interactions of potentially pathogenic CNV with additional (secondary) CNVs or single nucleotide variants (SNVs). Other involved factors may include gender-specific effects or environmental contributions. Development of risk models for interpreting such complex interactions may be necessary in order to provide better informed genetic counseling to the affected families.https://www.frontiersin.org/article/10.3389/fncel.2019.00057/fullCNV (copy number variant)autism spectrum disorderclinical evaluationgenomic medicinegenetic counseling |
| spellingShingle | Milen Velinov Genomic Copy Number Variations in the Autism Clinic—Work in Progress Frontiers in Cellular Neuroscience CNV (copy number variant) autism spectrum disorder clinical evaluation genomic medicine genetic counseling |
| title | Genomic Copy Number Variations in the Autism Clinic—Work in Progress |
| title_full | Genomic Copy Number Variations in the Autism Clinic—Work in Progress |
| title_fullStr | Genomic Copy Number Variations in the Autism Clinic—Work in Progress |
| title_full_unstemmed | Genomic Copy Number Variations in the Autism Clinic—Work in Progress |
| title_short | Genomic Copy Number Variations in the Autism Clinic—Work in Progress |
| title_sort | genomic copy number variations in the autism clinic work in progress |
| topic | CNV (copy number variant) autism spectrum disorder clinical evaluation genomic medicine genetic counseling |
| url | https://www.frontiersin.org/article/10.3389/fncel.2019.00057/full |
| work_keys_str_mv | AT milenvelinov genomiccopynumbervariationsintheautismclinicworkinprogress |