Síndrome de Coffin-Siris y Paladar Hendido: Reporte de un caso
Palabras clave:
Síndrome de Coffin-Siris, paladar hendido, Trastornos de Retraso en el Desarrollo, proteínas de gen, convulsión
Resumen
El síndrome de Coffin-Siris (CSS) es de herencia autosómica dominante y la mayoría de los casos reportados son de novo. En la literatura global existen reportados menos de 300 casos, dado la escasez en el número de casos su prevalencia e incidencia exactas son desconocidas. Sus manifestaciones clínicas se caracterizan por la triada de discapacidad intelectual, rasgos faciales toscos e hipoplasia del quinto dedo. En este estudio describiremos el abordaje diagnóstico de un caso pediátrico de síndrome de Coffin-Siris con variante probablemente patogénica en el gen SMARCA4 con manifestaciones clásicas de esta patología y otras no tan frecuentes como el paladar hendido.
Referencias
1. Orphanet: Síndrome de Coffin-Siris. Disponible en: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=ES&Expert=1465
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
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
Publicado
2023-08-08
Cómo citar
Gutierrez-Vargas, M., Ostos Alfonso, H., & Ortiz Sabogal, A. (2023). Síndrome de Coffin-Siris y Paladar Hendido: Reporte de un caso. Ustasalud, 23(1). https://doi.org/https://doi.org/10.15332/us.v23i1.3045
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