Intellectual disability genomics: current state, pitfalls and future challenges
Abstract Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic heterogeneity, as well as the difficulty in the establishment of the inheritance pattern, often result in...
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| Format: | Article |
| Language: | English |
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BMC
2021-12-01
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| Series: | BMC Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12864-021-08227-4 |
| _version_ | 1830509694721982464 |
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| author | Nuno Maia Maria João Nabais Sá Manuel Melo-Pires Arjan P. M. de Brouwer Paula Jorge |
| author_facet | Nuno Maia Maria João Nabais Sá Manuel Melo-Pires Arjan P. M. de Brouwer Paula Jorge |
| author_sort | Nuno Maia |
| collection | DOAJ |
| description | Abstract Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic heterogeneity, as well as the difficulty in the establishment of the inheritance pattern, often result in a delay in the diagnosis. It has become apparent that massive parallel sequencing can overcome these difficulties. In this review we address: (i) ID genetic aetiology, (ii) clinical/medical settings testing, (iii) massive parallel sequencing, (iv) variant filtering and prioritization, (v) variant classification guidelines and functional studies, and (vi) ID diagnostic yield. Furthermore, the need for a constant update of the methodologies and functional tests, is essential. Thus, international collaborations, to gather expertise, data and resources through multidisciplinary contributions, are fundamental to keep track of the fast progress in ID gene discovery. |
| first_indexed | 2024-12-22T01:38:51Z |
| format | Article |
| id | doaj.art-0a4d4fd750a641f78178fc03356d28d2 |
| institution | Directory Open Access Journal |
| issn | 1471-2164 |
| language | English |
| last_indexed | 2024-12-22T01:38:51Z |
| publishDate | 2021-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Genomics |
| spelling | doaj.art-0a4d4fd750a641f78178fc03356d28d22022-12-21T18:43:18ZengBMCBMC Genomics1471-21642021-12-0122111710.1186/s12864-021-08227-4Intellectual disability genomics: current state, pitfalls and future challengesNuno Maia0Maria João Nabais Sá1Manuel Melo-Pires2Arjan P. M. de Brouwer3Paula Jorge4Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto)Unit for Multidisciplinary Research in Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of PortoServiço de Neuropatologia, Centro Hospitalar e Universitário do Porto (CHUPorto)Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University NijmegenCentro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto)Abstract Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic heterogeneity, as well as the difficulty in the establishment of the inheritance pattern, often result in a delay in the diagnosis. It has become apparent that massive parallel sequencing can overcome these difficulties. In this review we address: (i) ID genetic aetiology, (ii) clinical/medical settings testing, (iii) massive parallel sequencing, (iv) variant filtering and prioritization, (v) variant classification guidelines and functional studies, and (vi) ID diagnostic yield. Furthermore, the need for a constant update of the methodologies and functional tests, is essential. Thus, international collaborations, to gather expertise, data and resources through multidisciplinary contributions, are fundamental to keep track of the fast progress in ID gene discovery.https://doi.org/10.1186/s12864-021-08227-4Neurodevelopmental disordersIntellectual disabilityMassive parallel sequencingVariant filteringVariant prioritizationAnimal and cellular modelling |
| spellingShingle | Nuno Maia Maria João Nabais Sá Manuel Melo-Pires Arjan P. M. de Brouwer Paula Jorge Intellectual disability genomics: current state, pitfalls and future challenges BMC Genomics Neurodevelopmental disorders Intellectual disability Massive parallel sequencing Variant filtering Variant prioritization Animal and cellular modelling |
| title | Intellectual disability genomics: current state, pitfalls and future challenges |
| title_full | Intellectual disability genomics: current state, pitfalls and future challenges |
| title_fullStr | Intellectual disability genomics: current state, pitfalls and future challenges |
| title_full_unstemmed | Intellectual disability genomics: current state, pitfalls and future challenges |
| title_short | Intellectual disability genomics: current state, pitfalls and future challenges |
| title_sort | intellectual disability genomics current state pitfalls and future challenges |
| topic | Neurodevelopmental disorders Intellectual disability Massive parallel sequencing Variant filtering Variant prioritization Animal and cellular modelling |
| url | https://doi.org/10.1186/s12864-021-08227-4 |
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