Genomic factors involved in neurodevelopment disorders
DOI:
https://doi.org/10.18041/2665-427X/ijeph.1.8638Keywords:
genetic, Computational Biology, Neurodevelopmental Disorders, Intellectual Disability , gen BCL1B, gen FANCI, gen GHR EX3Abstract
Background: Intellectual disability is part of the neurodevelopmental disorders, affecting 1-3 % of the population. The etiology is multifactorial, being genetic factors an important aspect in the disturbance of adaptative and intellectual skills, their heterogeneous presentation makes clinical and genetic diagnosis more difficult. With the advent of genomic techniques, it has been possible to detect and correlate possible candidate genes that cause these alterations; however, there are genetic variants that are difficult to interpret.
Methods: This review implemented a phenotype/genotype approach with a bioinformatic study in order to be able to perform the reclassification of the clinical significance of such variants according to the recommendation of the American College of Genetics and Genomics (ACMG) and to determine the true clinical of these genomic variants. This is in order to establish an early and timely diagnosis, a specific and directed treatment, an adequate follow-up and prognosis, and finally, to offer appropriate genetic counseling to the patient and his family group.
Results: The early identification of genomic variations through software and databases allows for establishing an opportune diagnosis that leads to early treatment, follow-up, prognosis, and genetic counseling.
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References
1. Stiles J, Jernigan TL. The basics of brain development. Neuropsychol Rev. 2010; 20(4): 327-48. doi: 10.1007/s11065-010-9148-4
2. Cardoso AR, Lopes-Marques M, Silva RM, Serrano C, Amorim A, Prata MJ, et al. Essential genetic findings in neurodevelopmental disorders. Hum Genomics. 2019; 13(1): 31. DOI: 10.1186/s40246-019-0216-4
3. Ilyas M, Mir A, Efthymiou S, Houlden H. The genetics of intellectual disability: Advancing technology and gene editing. F1000Research. 2020; 9:F1000 Faculty Rev-22. doi: 10.12688/f1000research.16315.1.
4. Purugganan O. Intellectual disabilities. Pediatr Rev. 2018; 39(6): 299-309. DOI: 10.1542/pir.2016-0116
5. Murat K, Thomas C, Camilo R, Massimiliano A, Jacob E, et al. Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders. Moll Cell Neurosci. 2018; 91(1): 140-50. DOI: 10.1016/j.mcn.2018.03.008
6. Chiurazzi P, Pirozzi F. Advances in understanding - genetic basis of intellectual disability. F1000Research. 2016; 5: F1000 Faculty Rev-599. DOI: 10.12688/f1000research.7134.1
7. Cañedo AR, Arencibia JR. Bioinformática: En busca de los secretos moleculares de la vida. ACIMED. 2004; 12(6).
8. Aguilar JL. La bioinformática como convergencia de la biotecnología y la informática. Boletín Perspect. 2003; 30:1-25.
9. National Human Genome Research Institute. Breve historia del proyecto del genoma humano; 2016. Available from: https://www.genome.gov/breve-historia-del-proyecto-del-genoma-humano
10. Green ED, Guyer MS; National Human Genome Research Institute. Charting a course for genomic medicine from base pair to bedside. Nature. 2011; 470(7333): 204-13. doi: 10.1038/nature09764.
11. Rubio S, Pacheco-Orozco RA, Gómez AM, Perdomo S, García-Robles R. Secuenciación de nueva generación (NGS) de ADN: presente y futuro en la práctica clínica. Univ Médica. 2020; 61(2): 49-63. Doi: 10.11144/javeriana.umed61-2.sngs.
12. Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, et al. Factors influencing the success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet. 2015; 47(7): 717-26. DOI: 10.1038/ng.3304
13. Sue R, Nazneen A, Sherri B, David B, Soma D, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405-24. doi: 10.1038/gim.2015.30.
14. Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genomic Medicine. 2018; 3: 16. Doi: 10.1038/s41525-018-0053-8
15. Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, et al. Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions. JAMA Pediatrics. 2017; 171: 855-62. doi: 10.1001/jamapediatrics.2017.1755.
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