Palabras clave
Hermanos
Genética
Exoma
Cómo citar
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Resumen
Objetivo: Describir un caso de dos hermanos con cambios de comportamiento y sus aspectos genéticos a partir del análisis de una variante genética común en ambos, mediante examen del exoma. Detalles del caso: Dos niñas, hijas de pareja sana, no consanguínea, que presentan cambios de conducta, síntomas gástricos y alérgicos, además de episodios recurrentes de fiebre sin asociación a infecciones. Ambos tenían retraso en el desarrollo neuropsicomotor, el niño 1 fue diagnosticado con Trastorno por Déficit de Atención e Hiperactividad y el niño 2 tenía Trastorno del Espectro Autista, las pruebas de cariotipo no mostraron cambios y la secuenciación del exoma del niño 1 mostró cambios en los genes TNFRSF1A, GPAA1 y STAR y del niño 2 en el Genes GALC, NLRC4, TNFRSF1A y VIHEP2. Consideraciones finales: Existen varios genes asociados al neurodesarrollo y esto se refleja en la mayor incidencia de cambios de comportamiento asociados a diversos cambios genéticos. Por tanto, secuenciar el exoma de individuos con estos diagnósticos se convierte en una herramienta valiosa para comprender mejor los genes implicados, aumentar el nivel de comprensión de la enfermedad y elegir intervenciones más eficientes.
Referencias
AMERICAN PSYCHIATRIC ASSOCIATION. Diagnostic and Statistical Manual of Mental Disorders: DSM-5. 5th ed. Washington, D.C: American Psychiatric Association. 2013.
ARBERAS C e RUGGIERI V. Autismo: aspectos genéticos y biológicos. Medicina (Buenos Aires), 2019; 79(1): 16-21.
BARKLEY RA, et al. Transtorno de déficit de atenção/hiperatividade: manual para diagnostico e tratamento. 2008; (3º ed.): Artmed.
BHANDARI R, et al. Neuropsychopathology of Autism Spectrum Disorder: Complex Interplay of Genetic, Epigenetic, and Environmental Factors. Adv Neurobiol., 2020; 24: 97-141.
BRUNO LP, et al. New candidates for autism/intellectual disability identified by whole-exome sequencing. International Journal of Molecular Sciences, 2021; 22(24): 13439.
CHASTE P e LEBOYER M. Autism risk factors: genes, environment, and gene-environment
interactions. Dialogues in clinical neuroscience, 2022.
CHRISTENSEN J, et al. Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. JAMA, 2013; 309: 1696–703.
CUDRICI C, et al. Revisiting TNF receptor-associated periodic syndrome (TRAPS): current perspectives. International Journal of Molecular Sciences, 2020; 21(9): 3263.
DE ALMEIDA OLIVEIRA CR e SOUZA JC. Neurobiologia do autismo infantil. Research, Society and Development, 2021; 10(1): e11910111495-e11910111495.
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.
DRIESSEN O, et al. A description of two brothers with permanently raised non-esterified aetiocholanolone blood level. Acta Endocr., 1968; 57: 177-186.
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.
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.
GENOVESE A e BUTLER MG. The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations. Genes (Basel), 2023; 14(3): 677.
GRAZIANO AC e CARDILE V. History, genetic, and recent advances on Krabbe disease. Gene. 2015; 555(1):2–13.
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.
HIROTA T e KING BH. Autism Spectrum Disorder: A Review. JAMA, 2023; 329(2): 157-168.
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.
KITAMURA A, et al. Uma mutação herdada em NLRC4 causa autoinflamação em humanos e ratos. J. Exp. Med., 2014; 211: 2385-2396.
LAI MC, et al. Autism. The Lancet, 2014; 383(9920): 896–910.
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).
LORSUNG E, et al. Biological timing and neurodevelopmental disorders: a role for circadian dysfunction in autism spectrum disorders. Frontiers in Neuroscience, 2021; (15): 642745.
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.
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.
OMIM - Online Mendelian Inheritance in Man - https://www.omim.org/. 2023.
PAULINE C e MARION L. Autism risk factors: genes, environment, and gene-environment interactions, Dialogues in Clinical Neuroscience, 2012; 14(3): 281-292.
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.
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.
RASHEED N. A brief report on autism awareness: A pervasive developmental brain disorder. International Journal of Health Sciences, 2023; 17(3): 1-2.
RODRIGUES WMA e REISDÖRFER G. Genética dos transtornos de neurodesenvolvimento: autismo, tdah e epilepsia. Cognitionis Scientific Journal, 2021; 4(2): 1-20.
ROMBERG N, et al. A mutação de NLRC4 causa uma síndrome de enterocolite e autoinflamação. Nature Genet., 2014; 45: 1135-1139.
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.
SHAO YH, et al. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. Neurogenetics, 2016; 17(2): 137–141.
STEINFELD H, et al. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics, 2016; 17(3): 159–164.
STELZER GF. Uma pequena história do autismo. São Leopoldo: Editora Oikos, 2010; 38.
TAYLOR MJ, et al. Etiology of Autism Spectrum Disorders and Autistic Traits Over Time. JAMA Psychiatry, 2020; 77(9): 936–943.
TORO, JR, et al. Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. Arch. Derm., 2000; 136: 1487-1494.
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.
WARRIER V, et al. Genetic correlates of phenotypic heterogeneity in autism. Nature Genetics, 2022; (54): 1293-1304.
WILDEMANN B, et al. The tumor necrosis factor-associated periodic syndrome, the brain, and tumor necrosis factor-A antagonists. Neurology, 2007; 68: 1742-1744.
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).
WORLD HEALTH ORGANIZATION. International Statistical Classification of Diseases and Related Health Problems: CID 11. https://icd.who.int/ct11/icd11_mms/en/release.
ZAFEIRIOU DI, et al. Childhood autism and associated comorbidities. Brain Dev., 2007; 29(5): 257-72.