Diagnosis of 7q11.23 deletion in a patient from Manaus, Amazonas with Williams-Beuren syndrome: Case report
DOI:
https://doi.org/10.33448/rsd-v13i5.45910Keywords:
Rare desease; Chromosomal deletion; Haploinsufficiency; Fluorescence in situ hybridization.Abstract
Williams-Beuren Syndrome is a rare disease caused by a chromosomal microdeletion in region 7q11.23. It is characterized as multisystemic, including intellectual and learning disabilities, distinct facial features, short stature, hypersocial behavior, and many malformations. Its diagnosis is traditionally clinical, but cytogenomic analyses such as fluorescence in situ hybridization can also be used for better etiological characterization of the syndrome. Our objective is to report the case of a boy in Manaus/Amazonas with Williams-Beuren Syndrome that presents a microdeletion in region 7q11.23. The patient is male, 12 years, of non-consanguineal parents, and no family history of hereditary diseases. The patient was sent for genetic testing after assessment of possible genetic syndrome, as the physical exams presented a gnome-like face, short nasal bridge, full lips, frequent smile, short stature, difficulty learning and atrioventricular dysplasia of valves with mild insufficiency and a cist in the left kidney. The results of the karyotype exam were normal and the fluorescence in situ hybridization revealed the microdeletion of region 7q11.23. Upon the follow-up, the subject was diagnosed with Williams-Beuren Syndrome. This microdeletion results in the loss of various genes that affect genic dosage/genic haploinsufficiency, resulting in a cytogenetic imbalance, consequently contributing to the patient’s phenotype. Therefore, the cytogenomic analysis was instrumental for the etiological diagnosis, in which microdeletion 7q11.23 was identified, allowing for proper diagnosis and prognosis, genetic counseling, and medical decisions, granting a better quality of life for the patient.
References
Bayes, M., Magano, L. F., Rivera, N., Flores, R. & Perez Jurado, L. A. (2003). Mutational mechanisms of Williams–Beuren syndrome deletions. The American Journal of Human Genetics, 73(1):131–51.
Byoun, J. T., Cho, J. Y., Yun, K. H., Rhee, S. J., Yu, S. T. & Oh, S. J. (2021). Mid-Aortic Syndrome in Williams-Beuren Syndrome with na Atypical Small-Sized Deletion of Chromosome 7q11.23 Misdiagnosed as Takayasu Arteritis. International Heart Journal, 62 (1): 207-210.
Carlotto, B. S., Deconte, D., Diniz, B. L., da Silva, P. R., Zen, P. R. G. & da Silva, A. A. (2023). Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review. Revista Paulista de Pediatria, 10 (42): e2022125.
Casarin, S. T. & Porto, A. R. (2021). Relato de Experiência e Estudo de Caso: algumas considerações. Journal of Nursing and Health, 11(2): e2111221998.
Cohen, L. Samanich, J., Panb, Q., Mehta, L. & Mariona, R. (2012). 17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature. Journal of Pediatric Genetics, 2: 135–141.
Crespi, B. J. & Procyshyn, T. L. (2017). Williams syndrome deletions and duplications: Genetic windows to understanding anxiety, sociality, autism, and schizophrenia. Neuroscience and Biobehavioral Reviews, 79: 14–26.
de Souza, D. H., Moretti-Ferreira, D. & Rugolo, L. M. S. S. (2007). Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome. Genetics and Molecular Biology, 30 (1): 17- 20.
Johnson, A. F., Nguyen, H.T., & Veitia, R. A. (2019). Causes and effects of haploinsufficiency. Biological reviews of the Cambridge Philosophical Society, 94(5): 1774-1785.
Kalantari, S., Biagio, M. D., Valente, E. M., Rossi, E. & Sirchia, F. (2023). Mosaic Williams syndrome: A case report. American Journal of Medical Genetics Part A, 191(1):249-252.
Kozel, B. A., Baral, B., Kim, C. A., Maryis, C. B., Osborne, L. R., Porter, M. & Pober, B. (2021). Williams syndrome. Nature Reviews, 7: 1-22.
Kruszka, P., Porras, A. R., Souza, D. H., Moresco, A., Huckstadt, V., Gil, A. D. et al. (2018). Williams–Beuren syndrome in diverse populations. American Journal of Medical Genetics Part A, 176(5):1128-1136.
Lupski, J. R. (1998). Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genetics. 14: 417–422.
Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., & Hungerford, D.A. (1960). Chromosome preparations of leukocytes cultured from human peripheral blood. Experimental Cell Research, 20: 613–616.
Morrill, A. A. & Amon, A. (2019). Why haploinsufficiency persists. Proceedings of the National Academy of Sciences, 11;116 (24): 11866-11871.
Pober, B. R. (2010). Williams-Beuren syndrome. The New England Journal of Medicine, 362-239.
Serrano - Juárez, C. A., Corona, B. P., Rodríguez‑Camacho, M., Sandoval‑Lira, L., Villalva‑Sánchez, A. F., Yáñez‑Téllez, M. G. & López, M. F. R. (2023). Neuropsychological Genotype–Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review Neuropsychology Review, 33(4): 891-911.
Seabright, M. (1971). A rapid banding technique for human chromosomes. Lancet., 2(7731): 971-972.
Sullivan, K. E. (2019). Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Immunological Reviews, 287: 186–201.
Twite, M. D., Stenquist, S. & Ing, R. J. (2019). Williams syndrome. Pediatric Anesthesia, 29: 483 - 490.
Zhou, J., Zheng, Y., Liang, G., Xu, X., Liu, J., Chen, S., Gel, T., Wen, P., Zhang, Y., Liu, X., Zhuang, J., Wu, Y. & Chen, J. (2022). Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders. BMC Medical Genomics, 15:79
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