Distintos fenótipos do neurodesenvolvimento observados em irmandade com variante genética em comum: relato de caso
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Feb 26, 2024
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Resumo
Objetivo: Descrever um caso de dois irmãos com alterações comportamentais e seus aspectos genéticos baseados em análise de variante genética comum em ambos, através do exame de exoma. Detalhamento de caso: Trata-se de duas crianças, filhas de um casal hígido e não consanguíneo, que apresentam alterações comportamentais, sintomas gástricos e alérgicos, além de episódios recorrentes de febre sem associação com infecções. Ambos apresentaram atraso no desenvolvimento neuropsicomotor, sendo a criança 1 com diagnóstico de Transtorno do Déficit de Atenção e Hiperatividade e a criança 2 com Transtorno do Espectro Autista. Os exames de cariótipos não apresentaram alterações e o sequenciamento do exoma da criança 1 mostrou alterações nos genes TNFRSF1A, GPAA1 e STAR e da criança 2 nos genes GALC, NLRC4, TNFRSF1A e HIVEP2. Considerações Finais: Existem vários genes associados ao neurodesenvolvimento e isso reflete na maior incidência de alterações comportamentais associadas a diversas alterações genéticas. Sendo assim, o sequenciamento do exoma dos indivíduos com esses diagnósticos torna-se uma ferramenta valiosa para melhor entendimento dos genes envolvidos, elevar o nível de compreensão da doença e escolha de intervenções mais eficientes.
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Como Citar
UchoaE. M. G. S., ContiB. F., CruzA. D. da, GigonzacM. A. D., & GigonzacT. C. V. (2024). Distintos fenótipos do neurodesenvolvimento observados em irmandade com variante genética em comum: relato de caso. Revista Eletrônica Acervo Saúde, 24(2), e15257. https://doi.org/10.25248/reas.e15257.2024
Seção
Estudos de Caso
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34. SHAO YH, et al. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. Neurogenetics, 2016; 17(2): 137–141.
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2. ARBERAS C e RUGGIERI V. Autismo: aspectos genéticos y biológicos. Medicina (Buenos Aires), 2019; 79(1): 16-21.
3. BARKLEY RA, et al. Transtorno de déficit de atenção/hiperatividade: manual para diagnostico e tratamento. 2008; (3º ed.): Artmed.
4. BHANDARI R, et al. Neuropsychopathology of Autism Spectrum Disorder: Complex Interplay of Genetic, Epigenetic, and Environmental Factors. Adv Neurobiol., 2020; 24: 97-141.
5. BRUNO LP, et al. New candidates for autism/intellectual disability identified by whole-exome sequencing. International Journal of Molecular Sciences, 2021; 22(24): 13439.
6. CHASTE P e LEBOYER M. Autism risk factors: genes, environment, and gene-environment
7. interactions. Dialogues in clinical neuroscience, 2022.
8. CHRISTENSEN J, et al. Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. JAMA, 2013; 309: 1696–703.
9. CUDRICI C, et al. Revisiting TNF receptor-associated periodic syndrome (TRAPS): current perspectives. International Journal of Molecular Sciences, 2020; 21(9): 3263.
10. DE ALMEIDA OLIVEIRA CR e SOUZA JC. Neurobiologia do autismo infantil. Research, Society and Development, 2021; 10(1): e11910111495-e11910111495.
11. DE FREITAS AM, et al. Transtorno do espectro autista: estudo de uma série de casos com alterações genéticas. Cadernos de Pós-Graduação em Distúrbios do Desenvolvimento, 2017; 17: 2.
12. DRIESSEN O, et al. A description of two brothers with permanently raised non-esterified aetiocholanolone blood level. Acta Endocr., 1968; 57: 177-186.
13. EMERSON RW, et al. IBIS Network. Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age. Sci Transl Med., 2017; 9(393): eaag2882.
14. FILGUEIRA L, et al. Desenvolvimento de estratégia de pesquisa participativa envolvendo pessoas autistas com diferentes níveis de suporte. Ciência & Saúde Coletiva. 2023; 28: 1501-1512.
15. GENOVESE A e BUTLER MG. The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations. Genes (Basel), 2023; 14(3): 677.
16. GRAZIANO AC e CARDILE V. History, genetic, and recent advances on Krabbe disease. Gene. 2015; 555(1):2–13.
17. HAZLETT HC, et al. IBIS Network; Clinical Sites; Data Coordinating Center; Image Processing Core; Statistical Analysis. Early brain development in infants at high risk for autism spectrum disorder. Nature, 2017; 542(7641): 348-351.
18. HIROTA T e KING BH. Autism Spectrum Disorder: A Review. JAMA, 2023; 329(2): 157-168.
19. KANG E, et al. Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia. Mol Med., 2017; 23: 149–154.
20. KITAMURA A, et al. Uma mutação herdada em NLRC4 causa autoinflamação em humanos e ratos. J. Exp. Med., 2014; 211: 2385-2396.
21. LAI MC, et al. Autism. The Lancet, 2014; 383(9920): 896–910.
22. LAWALL A e RIBEIRO A. Do sintoma ao diagnóstico: evolução das caracterizações nosográficas do autismo do século xx ao xxi. Cadernos de psicologia, 2022; 4(7).
23. LORSUNG E, et al. Biological timing and neurodevelopmental disorders: a role for circadian dysfunction in autism spectrum disorders. Frontiers in Neuroscience, 2021; (15): 642745.
24. MATTE B. et al. ADHD in DSM-5: a field trial in a large, representative sample of 18-to 19-year-old adults. Psychological medicine, 2015; 45(2): 361-373.
25. NGUYEN TTM, et al. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet., 2017; 101(5): 856–865.
26. OMIM - Online Mendelian Inheritance in Man - https://www.omim.org/. 2023.
27. PAULINE C e MARION L. Autism risk factors: genes, environment, and gene-environment interactions, Dialogues in Clinical Neuroscience, 2012; 14(3): 281-292.
28. PELLICANO E e DEN HOUTING JJ. Annual Research Review: Shifting from ‘normal science’to neurodiversity in autism science. Journal of Child Psychology and Psychiatry, 2022; 63(4): 381-396.
29. RAI D, et al. Parental depression, maternal antidepressant use during pregnancy, and risk of autism spectrum disorders: population based case-control study. BMJ, 2013; 346: f2059.
30. RASHEED N. A brief report on autism awareness: A pervasive developmental brain disorder. International Journal of Health Sciences, 2023; 17(3): 1-2.
31. RODRIGUES WMA e REISDÖRFER G. Genética dos transtornos de neurodesenvolvimento: autismo, tdah e epilepsia. Cognitionis Scientific Journal, 2021; 4(2): 1-20.
32. ROMBERG N, et al. A mutação de NLRC4 causa uma síndrome de enterocolite e autoinflamação. Nature Genet., 2014; 45: 1135-1139.
33. SATTERSTROM FK, et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell, 2020; 180(3): 568-584.
34. SHAO YH, et al. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. Neurogenetics, 2016; 17(2): 137–141.
35. STEINFELD H, et al. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics, 2016; 17(3): 159–164.
36. STELZER GF. Uma pequena história do autismo. São Leopoldo: Editora Oikos, 2010; 38.
37. TAYLOR MJ, et al. Etiology of Autism Spectrum Disorders and Autistic Traits Over Time. JAMA Psychiatry, 2020; 77(9): 936–943.
38. TORO, JR, et al. Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. Arch. Derm., 2000; 136: 1487-1494.
39. VELMESHEV D, et al. Cell-Type-Specific Analysis of Molecular Pathology in Autism Identifies Common Genes and Pathways Affected Across Neocortical Regions. Mol Neurobiol., 2020; (57): 2279–2289.
40. WARRIER V, et al. Genetic correlates of phenotypic heterogeneity in autism. Nature Genetics, 2022; (54): 1293-1304.
41. WILDEMANN B, et al. The tumor necrosis factor-associated periodic syndrome, the brain, and tumor necrosis factor-A antagonists. Neurology, 2007; 68: 1742-1744.
42. WOLRAICH ML, et al. Clinical practice guideline for the diagnosis, evaluation, and treatment of attention-deficit/hyperactivity disorder in children and adolescents. Pediatrics, 2019; 144(4).
43. WORLD HEALTH ORGANIZATION. International Statistical Classification of Diseases and Related Health Problems: CID 11. https://icd.who.int/ct11/icd11_mms/en/release.
44. ZAFEIRIOU DI, et al. Childhood autism and associated comorbidities. Brain Dev., 2007; 29(5): 257-72.