Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article
Intellectual disability affects about 1-2% of the general population worldwide, and this is the leading socio-economic problem of the healthcare system. Reasearch into the genetic causes of intellectual disability is challenging because these conditions are genetically heterogeneous with many diffe...
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| Format: | Article |
| Language: | English |
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Vilnius University Press
2022-03-01
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| Series: | Neurologijos seminarai |
| Subjects: | |
| Online Access: | https://www.journals.vu.lt/neurologijos_seminarai/article/view/29289 |
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| author | V. Kučinskas E. Preikšaitienė L. Ambrozaitytė L. Cimbalistienė A. Utkus |
| author_facet | V. Kučinskas E. Preikšaitienė L. Ambrozaitytė L. Cimbalistienė A. Utkus |
| author_sort | V. Kučinskas |
| collection | DOAJ |
| description |
Intellectual disability affects about 1-2% of the general population worldwide, and this is the leading socio-economic problem of the healthcare system. Reasearch into the genetic causes of intellectual disability is challenging because these conditions are genetically heterogeneous with many different genetic alterations resulting in clinically indistinguishable phenotypes. Extensive molecular technologies are being used in research to determine the genetic causes of these conditions. In our research, the detection of chromosomal aberrations by molecular karyotyping and whole exome sequencing capable of uncovering pathogenic variants in any of the human genes were the main technologies used to identify the molecular causes of intellectual disability. Collaboration with foreign scientific institutions for further clinical, molecular and functional investigations of rare causes of intellectual disability has allowed the characterisation of rare known and new syndromes. We believe that new insights into the molecular causes and pathogenesis mechanisms of the intellectual disability may be useful in developing treatment options in the future.
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| format | Article |
| id | doaj-art-036c6670d310412ba964a1da60f65c00 |
| institution | Kabale University |
| issn | 1392-3064 2424-5917 |
| language | English |
| publishDate | 2022-03-01 |
| publisher | Vilnius University Press |
| record_format | Article |
| series | Neurologijos seminarai |
| spelling | doaj-art-036c6670d310412ba964a1da60f65c002025-01-20T18:22:16ZengVilnius University PressNeurologijos seminarai1392-30642424-59172022-03-01261 (91)10.29014/NS.2022.26.3Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review articleV. Kučinskas0E. Preikšaitienė1L. Ambrozaitytė2L. Cimbalistienė3A. Utkus4Vilnius University, LithuaniaVilnius University, LithuaniaVilnius University, LithuaniaVilnius University, LithuaniaVilnius University, Lithuania Intellectual disability affects about 1-2% of the general population worldwide, and this is the leading socio-economic problem of the healthcare system. Reasearch into the genetic causes of intellectual disability is challenging because these conditions are genetically heterogeneous with many different genetic alterations resulting in clinically indistinguishable phenotypes. Extensive molecular technologies are being used in research to determine the genetic causes of these conditions. In our research, the detection of chromosomal aberrations by molecular karyotyping and whole exome sequencing capable of uncovering pathogenic variants in any of the human genes were the main technologies used to identify the molecular causes of intellectual disability. Collaboration with foreign scientific institutions for further clinical, molecular and functional investigations of rare causes of intellectual disability has allowed the characterisation of rare known and new syndromes. We believe that new insights into the molecular causes and pathogenesis mechanisms of the intellectual disability may be useful in developing treatment options in the future. https://www.journals.vu.lt/neurologijos_seminarai/article/view/29289genome rearrangementscongenital developmental disordersntellectual disabilityAlkuraya-Kucinskas syndrome |
| spellingShingle | V. Kučinskas E. Preikšaitienė L. Ambrozaitytė L. Cimbalistienė A. Utkus Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article Neurologijos seminarai genome rearrangements congenital developmental disorders ntellectual disability Alkuraya-Kucinskas syndrome |
| title | Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article |
| title_full | Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article |
| title_fullStr | Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article |
| title_full_unstemmed | Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article |
| title_short | Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article |
| title_sort | genome rearrangements in neurodevelopmental disorders of the central nervous system origins genomic mechanisms functional and clinical consequences review article |
| topic | genome rearrangements congenital developmental disorders ntellectual disability Alkuraya-Kucinskas syndrome |
| url | https://www.journals.vu.lt/neurologijos_seminarai/article/view/29289 |
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