Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders
Pathogenic copy number variations (CNVs) contribute to the etiology of neurodevelopmental/neuropsychiatric disorders (NDs). Increased CNV burden has been found to be critically involved in NDs compared with controls in clinical studies. The 1q21.1 CNVs, rare and large chromosomal microduplications a...
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| Format: | Article |
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MDPI AG
2021-05-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/11/5811 |
| _version_ | 1797532105217933312 |
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| author | Joy Yoon Yingwei Mao |
| author_facet | Joy Yoon Yingwei Mao |
| author_sort | Joy Yoon |
| collection | DOAJ |
| description | Pathogenic copy number variations (CNVs) contribute to the etiology of neurodevelopmental/neuropsychiatric disorders (NDs). Increased CNV burden has been found to be critically involved in NDs compared with controls in clinical studies. The 1q21.1 CNVs, rare and large chromosomal microduplications and microdeletions, are detected in many patients with NDs. Phenotypes of duplication and deletion appear at the two ends of the spectrum. Microdeletions are predominant in individuals with schizophrenia (SCZ) and microcephaly, whereas microduplications are predominant in individuals with autism spectrum disorder (ASD) and macrocephaly. However, its complexity hinders the discovery of molecular pathways and phenotypic networks. In this review, we summarize the recent genome-wide association studies (GWASs) that have identified candidate genes positively correlated with 1q21.1 CNVs, which are likely to contribute to abnormal phenotypes in carriers. We discuss the clinical data implicated in the 1q21.1 genetic structure that is strongly associated with neurodevelopmental dysfunctions like cognitive impairment and reduced synaptic plasticity. We further present variations reported in the phenotypic severity, genomic penetrance and inheritance. |
| first_indexed | 2024-03-10T10:54:22Z |
| format | Article |
| id | doaj.art-234a1db284054c4290e13aa1de6f198a |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T10:54:22Z |
| publishDate | 2021-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-234a1db284054c4290e13aa1de6f198a2023-11-21T21:56:30ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-05-012211581110.3390/ijms22115811Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric DisordersJoy Yoon0Yingwei Mao1Department of Biology, Eberly College of Science, Pennsylvania State University, University Park, PA 16802, USADepartment of Biology, Eberly College of Science, Pennsylvania State University, University Park, PA 16802, USAPathogenic copy number variations (CNVs) contribute to the etiology of neurodevelopmental/neuropsychiatric disorders (NDs). Increased CNV burden has been found to be critically involved in NDs compared with controls in clinical studies. The 1q21.1 CNVs, rare and large chromosomal microduplications and microdeletions, are detected in many patients with NDs. Phenotypes of duplication and deletion appear at the two ends of the spectrum. Microdeletions are predominant in individuals with schizophrenia (SCZ) and microcephaly, whereas microduplications are predominant in individuals with autism spectrum disorder (ASD) and macrocephaly. However, its complexity hinders the discovery of molecular pathways and phenotypic networks. In this review, we summarize the recent genome-wide association studies (GWASs) that have identified candidate genes positively correlated with 1q21.1 CNVs, which are likely to contribute to abnormal phenotypes in carriers. We discuss the clinical data implicated in the 1q21.1 genetic structure that is strongly associated with neurodevelopmental dysfunctions like cognitive impairment and reduced synaptic plasticity. We further present variations reported in the phenotypic severity, genomic penetrance and inheritance.https://www.mdpi.com/1422-0067/22/11/5811copy number variationmicrodeletionmicroduplicationschizophreniaautism spectrum disordermicrocephaly |
| spellingShingle | Joy Yoon Yingwei Mao Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders International Journal of Molecular Sciences copy number variation microdeletion microduplication schizophrenia autism spectrum disorder microcephaly |
| title | Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders |
| title_full | Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders |
| title_fullStr | Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders |
| title_full_unstemmed | Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders |
| title_short | Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders |
| title_sort | dissecting molecular genetic mechanisms of 1q21 1 cnv in neuropsychiatric disorders |
| topic | copy number variation microdeletion microduplication schizophrenia autism spectrum disorder microcephaly |
| url | https://www.mdpi.com/1422-0067/22/11/5811 |
| work_keys_str_mv | AT joyyoon dissectingmoleculargeneticmechanismsof1q211cnvinneuropsychiatricdisorders AT yingweimao dissectingmoleculargeneticmechanismsof1q211cnvinneuropsychiatricdisorders |