Coffin-Siris Syndrome and Cleft Palate: A Case Report
DOI:
https://doi.org/10.15332/us.v23i1.3045Keywords:
Coffin-Siris syndrome, cleft palate, Child Development Deviations, gene proteins, seizureAbstract
Coffin-Siris syndrome (CSS) is autosomal dominant and most reported cases are de novo. In the global literature, there are less than 300 cases reported, given the scarcity in the number of cases, their exact prevalence and incidence are unknown. Its clinical manifestations are characterized by the triad of intellectual disability, coarse facial features, and hypoplasia of the fifth finger. In this study we will describe the diagnostic approach of a pediatric case of Coffin-Siris syndrome with a probably pathogenic variant in the SMARCA4 gene with classic manifestations of this pathology and others not as frequent as cleft palate.
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References
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19. Vasko A, Schrier Vergano SA. Language Impairments in Individuals With Coffin-Siris Syndrome. Front Neurosci. 2022;15. DOI: https://doi.org/10.3389/fnins.2021.802583
20. Bao Y, Pan X, Pan S, Ge L, Zhuang D, Li H. [Diagnosis a fetus with Coffin-Siris syndrome due to variant of SMARCA4 gene by whole exome sequencing]. Chinese. 2022;39(12):1375–138. DOI: https://doi.org/10.3760/cma.j.cn511374-20210330-00283
21. Munabi NCO, Mikhail S, Toubat O, Webb M, Auslander A, Sanchez-Lara PA, et al. High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects. Am J Med Genet A. 2022;188(7):2082–95. DOI: https://doi.org/10.1002/ajmg.a.62748
22. Sofronova V, Fukushima Y, Masuno M, Naka M, Nagata M, Ishihara Y, et al. A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. Hum Genome Var. 2022 Jul 25;9(1):26. DOI: https://doi.org/10.1038/s41439-022-00203-y
23. Cappuccio G, Brunetti-Pierri R, Torella A, Pinelli M, Castello R, Casari G, et al. Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. Mol Genet Genomic Med. 2019;7(6). DOI: https://doi.org/10.1002/mgg3.682
24. Fernando TM, Piskol R, Bainer R, Sokol ES, Trabucco SE, Zhang Q, et al. Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients. Nat Commun. 2020;11(1): 5551. DOI: https://doi.org/10.1038/s41467-020-19402-8
2. ENFERMEDADES HUÉRFANAS-RARAS COLOMBIA, 2018. Disponible en: https://www.ins.gov.co/buscador-eventos/Informesdeevento/ENFERMEDADES%20HU%C3%89RFANAS-RARAS_2018.pdf
3. Vasko A, Drivas TG, Schrier Vergano SA. Genotype-phenotype correlations in 208 individuals with coffin-siris syndrome. Genes (Basel) [Internet]. 2021;12(6): 937. DOI: https://doi.org/10.3390/genes12060937
4. Mardinian K, Adashek JJ, Botta GP, Kato S, Kurzrock R. SMARCA4: Implications of an altered chromatin-remodeling gene for cancer development and therapy. Mol Cancer Ther. 2021;20(12):2341–2351.DOI: https://doi.org/10.1158/15
35-7163.MCT-21-0433
5. Mittal P, Roberts CWM. The SWI/SNF complex in cancer - biology, biomarkers and therapy. Nat Rev Clin Oncol. 2020;17(7):435–448. DOI: https://doi.org/10.1038/s41571-020-0357-3
6. Dsouza NR, Zimmermann MT, Geddes GC. A case of Coffin-Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant. Cold Spring Harb Mol Case Stud. 2019;5(3). DOI: https://doi.org/10.1101/mcs.a003962
7. Li D, Ahrens-Nicklas RC, Baker J, Bhambhani V, Calhoun A, Cohen JS, et al. The variability of SMARCA4-related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes? Am J Med Genet A. 2020182(9):2058–2067. DOI: https://doi.org/10.1002/ajmg.a.61732
8. Reed L, Grady A, Wilson C, Stocks R. SMARCE1-related Coffin-Siris Syndrome: Case report and otolaryngologic manifestations of the syndrome. Int J Pediatr Otorhinolaryngol. 2020;128: 109-735. DOI: https://doi.org/10.1016/j.ijporl.2019.109735
9. Yu QX, Jing XY, Lin XM, Zhen L, Li DZ. Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features? Prenat Diagn. 2022;42(12):1488–1492. DOI: https://doi.org/10.1002/pd.6213
10. Ciliberto M, Skjei K, Vasko A, Schrier Vergano S. Epilepsy in Coffin–Siris syndrome: A report from the international CSS registry and review of the literature. Am J Med Genet A. 2023;191(1):22–28. DOI: https://doi.org/10.1002/ajmg.a.62979
11. Schrier Vergano S, Santen G, Wieczorek D. Coffin-Siris Syndrome. 2013. GeneReviews®, edited by Margaret P Adam et. al., University of Washington, Seattle. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK131811/
12. Kosho T, Okamoto N, Imai Y, Ohashi H, van Eerde AM, Chrzanowska K, et al. Genotype-phenotype correlation of coffin-siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Am J Med Genet C Semin Med Genet. 2014;166(3):262–275. DOI: https://doi.org/10.1002/ajmg.c.31407
13. Curcio MR, Ferranti S, Lotti F, Grosso S. Coffin-Siris syndrome and epilepsy. Neurol Sci. 2021; 42(2): 727–729. DOI: https://doi.org/10.1007/s10072-020-04782-y
14. Santen GWE, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BWM, van Minderhout IJHM, et al. Coffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients. Hum Mutat. 2013;34(11):1519–1528. DOI: https://doi.org/10.1002/humu.22394
15. McCague EA, Lamichhane R, Holt N, Schrier Vergano SA. Growth charts for individuals with Coffin-Siris syndrome. Am J Med Genet A. 2020;182(10):2253–2262. DOI: https://doi.org/10.1002/ajmg.a.61823
16. Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, et al. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. J Hum Genet. 2019;64(12):1173–1186. DOI: https://doi.org/10.1038/s10038-019-0667-4
17. Caengprasath N, Buasong A, Ittiwut C, Khongphatthanayothin A, Porntaveetus T, Shotelersuk V. Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants. Eur J Med Genet. 2022;65(11). DOI: https://doi.org/10.1016/j.ejmg.2022.104601
18. Mitrakos A, Lazaros L, Pantou A, Mavrou A, Kanavakis E, Tzetis M. Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH. Mol Syndromol. 2020;11(3):141–5. DOI: https://doi.org/10.1159/000508563
19. Vasko A, Schrier Vergano SA. Language Impairments in Individuals With Coffin-Siris Syndrome. Front Neurosci. 2022;15. DOI: https://doi.org/10.3389/fnins.2021.802583
20. Bao Y, Pan X, Pan S, Ge L, Zhuang D, Li H. [Diagnosis a fetus with Coffin-Siris syndrome due to variant of SMARCA4 gene by whole exome sequencing]. Chinese. 2022;39(12):1375–138. DOI: https://doi.org/10.3760/cma.j.cn511374-20210330-00283
21. Munabi NCO, Mikhail S, Toubat O, Webb M, Auslander A, Sanchez-Lara PA, et al. High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects. Am J Med Genet A. 2022;188(7):2082–95. DOI: https://doi.org/10.1002/ajmg.a.62748
22. Sofronova V, Fukushima Y, Masuno M, Naka M, Nagata M, Ishihara Y, et al. A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. Hum Genome Var. 2022 Jul 25;9(1):26. DOI: https://doi.org/10.1038/s41439-022-00203-y
23. Cappuccio G, Brunetti-Pierri R, Torella A, Pinelli M, Castello R, Casari G, et al. Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. Mol Genet Genomic Med. 2019;7(6). DOI: https://doi.org/10.1002/mgg3.682
24. Fernando TM, Piskol R, Bainer R, Sokol ES, Trabucco SE, Zhang Q, et al. Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients. Nat Commun. 2020;11(1): 5551. DOI: https://doi.org/10.1038/s41467-020-19402-8
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Published
2023-08-08
How to Cite
Gutierrez-Vargas, M. C., Ostos Alfonso, H., & Ortiz Sabogal, A. M. (2023). Coffin-Siris Syndrome and Cleft Palate: A Case Report. Ustasalud, 23(1). https://doi.org/10.15332/us.v23i1.3045
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