Keywords
Siblings
Genetics
Exome
How to Cite
Copyright © | All rights reserved.
The journal holds the exclusive copyright for the publication of this article under the terms of Brazilian law 9610/98.
Partial reproduction
The use of parts of the texts, figures and questionnaire of the article is free, being mandatory the citation of the authors and journal.
Total reproduction
It is expressly prohibited and must be authorized by the journal.
Abstract
Objective: To describe a case of two brothers with behavioral changes and their genetic aspects based on analysis of a common genetic variant in both, through exome examination. Case details: Two children, daughters of a healthy, non-consanguineous couple who present behavioral changes, gastric and allergic symptoms, in addition to recurrent episodes of fever without association with infections. Both had delayed neuropsychomotor development, child 1 was diagnosed with Attention Deficit Hyperactivity Disorder and child 2 had Autism Spectrum Disorder. Karyotype tests showed no changes and exome sequencing of child 1 showed changes in the TNFRSF1A genes, GPAA1 and STAR and from child 2 in the GALC, NLRC4, TNFRSF1A and HIVEP2 genes. Final considerations: There are several genes associated with neurodevelopment and this is reflected in the higher incidence of behavioral changes associated with various genetic changes. Therefore, sequencing the exome of individuals with these diagnoses becomes a valuable tool for better understanding the genes involved, increasing the level of understanding of the disease and choosing more efficient interventions.
References
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.