Artículos de Revisión
Publicado 2019-12-26
Palabras clave
- Enfermedades raras,
- Anomalías craneofaciales,
- Amelogénesis imperfecta,
- Proteínas quinasas
Cómo citar
Diaz Rojas, K. A., & Simancas-Escorcia, V. (2019). Caracterización fenotípica del Síndrome de Raine. Ciencia Y Salud Virtual, 11(2), 131–142. Recuperado a partir de https://revistas.uninunez.edu.co/index.php/cienciaysalud/article/view/1267
Resumen
Introducción: el Síndrome de Raine (RNS, MIM 259775) es un trastorno genético autosómico recesivo perteneciente a las enfermedades raras causado por mutaciones del gen FAM20C. Objetivos: describir las características clínicas y fisiopatológicas del RNS de acuerdo a la evidencia científica actual. Método: para la recolección del material se realizó una búsqueda electrónica en las bases de datos Medline (Pubmed), EBSCO-Host and Scopus (Science direct) empleando los términos: Raine syndrome, Family with sequence similarity 20 member C (FAM20C), phenotype, Amelogenesis imperfecta hasta enero del 2019. Resultados: se constató la existencia de dos tipos de RNS: RNS letal y RNS no letal. Aunque en el primero, los individuos fallecen horas después del nacimiento contrario a los pacientes RNS no letal. Los pacientes RNS se caracterizan clínicamente por presentar anomalías craneofaciales, osteosclerosis, exoftalmia, paladar estrecho, orejas en baja posición, prognatismo marcado, deformidades de la cara media y nariz, hiperplasia gingival y amelogénesis imperfecta. Se sugiere a los profesionales de la salud realizar un cuidadoso y detallado diagnóstico a causa de la variabilidad de características clínicas, además de tener en cuenta que la valoración y evaluación realizada con un equipo multidisciplinario aumenta las probabilidades de precisión de las mismas.
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Citas
1. Attwood MM, Rask-Andersen M, Schiöth HB. Orphan Drugs and Their Impact on Pharmaceutical Development. Trends in Pharmacological Sciences. 2018 Jun 1;39(6):525–35. DOI: 10.1016/j.tips.2018.09.007.
2. Le TT. Incentivizing Orphan Product Development: United States Food and Drug Administration Orphan Incentive Programs. Adv Exp Med Biol. 2017;1031:183–96. DOI: 10.1007/978-3-319-67144-4_10.
3. Pareja Arcila ML. Situación actual de las enfermedades huérfanas en Colombia 2017. CES Derecho. 2017;8(2):231–41. DOI: http://dx.doi.org/10.21615/cesder.8.2.2
4. Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development. Rare Diseases and Orphan Products: Accelerating Research and Development. Field MJ, Boat TF, editors. Washington (DC): National Academies Press (US); 2010. (The National Academies Collection: Reports funded by National Institutes of Health).
5. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nature Reviews Genetics. 2013 Oct;14(10):681–91. DOI: 10.1038/nrg3555.
6. Kan AE, Kozlowski K. New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). Am J Med Genet. 1992 Jul 15;43(5):860–4. DOI:10.1002/ajmg.1320430522
7. Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, et al. FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. BMC Genomics. 2005 Jan 27;6:11. DOI:10.1186/1471-2164-6-11
8. Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet. 2009 Mar;75(3):271–6. DOI:10.1111/j.1399-0004.2008.01118.x
9. Acevedo AC, Poulter JA, Alves PG, de Lima CL, Castro LC, Yamaguti PM, et al. Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. BMC Med Genet. 2015 Feb 21;16:8. DOI:10.1186/s12881-015-0154-5
10. Fradin M, Stoetzel C, Muller J, Koob M, Christmann D, Debry C, et al. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Clin Genet. 2011 Aug;80(2):177–83. DOI: 10.1111/j.1399-0004.2010.01516.x
11. Tagliabracci VS, Engel JL, Wen J, Wiley SE, Worby CA, Kinch LN, et al. Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. Science. 2012 Jun 1;336(6085):1150–3. DOI:10.1126/science.1217817
12. Tagliabracci VS, Wiley SE, Guo X, Kinch LN, Durrant E, Wen J, et al. A Single Kinase Generates the Majority of the Secreted Phosphoproteome. Cell. 2015 Jun 18;161(7):1619–32. DOI:10.1016/j.cell.2015.05.028
13. Hutton B, Catalá-López F, Moher D. La extensión de la declaración PRISMA para revisiones sistemáticas que incorporan metaanálisis en red: PRISMA-NMA. Med Clin (Barc). 2016 Sep 16;147(6):262–6. DOI: 10.1016/j.medcli.2016.02.025
14. Moher D, Liberati A, Tetzlaff J, Altman DG. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. BMJ. 2009 Jul 21;339:b2535. DOI: 10.1016/j.jcms.2010.11.001
15. Raine J, Winter RM, Davey A, Tucker SM. Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. Journal of Medical Genetics. 1989 Dec 1;26(12):786–8. DOI: 10.1016/j.jcms.2010.11.001
16. Kingston HM, Freeman JS, Hall CM. A new lethal sclerosing bone dysplasia. Skeletal Radiol. 1991;20(2):117–9. Doi:10.1007/bf00193823
17. Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, et al. Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Am J Med Genet A. 2007 Dec 15;143A(24):3280–5. DOI:10.1002/ajmg.a.32022
18. Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet. 2009 Mar;75(3):271–6. DOI:10.1111/j.1399-0004.2008.01118.x
19. Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, et al. Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development. The American Journal of Human Genetics. 2007 Nov 1;81(5):906–12. DOI:10.1086/522240
20. Acevedo AC, Poulter JA, Alves PG, de Lima CL, Castro LC, Yamaguti PM, et al. Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. BMC Med Genet. 2015 Feb 21;16:8. DOI:10.1186/s12881-015-0154-5
21. Elalaoui SC, Al-Sheqaih N, Ratbi I, Urquhart JE, O’Sullivan J, Bhaskar S, et al. Non lethal Raine syndrome and differential diagnosis. Eur J Med Genet. 2016 Nov;59(11):577–83. DOI:10.1016/j.ejmg.2016.09.018
22. Tamai K, Tada K, Takeuchi A, Nakamura M, Marunaka H, Washio Y, et al. Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome. Am J Med Genet A. 2018;176(3):682–6. DOI:10.1002/ajmg.a.38598
23. Kochar GS, Choudhary A, Gadodia A, Gupta N, Simpson MA, Crosby AH, et al. Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent. Clin Dysmorphol. 2010 Jul;19(3):153–6. DOI:10.1097/MCD.0b013e32833a22c5
24. Ababneh FK, AlSwaid A, Youssef T, Al Azzawi M, Crosby A, AlBalwi MA. Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. Am J Med Genet A. 2013 Dec;161A(12):3155–60. DOI:10.1002/ajmg.a.36160
25. Kinoshita Y, Hori M, Taguchi M, Fukumoto S. Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia. Bone. 2014 Oct;67:145–51. DOI:10.1016/j.bone.2014.07.009
26. Whyte MP, McAlister WH, Fallon MD, Pierpont ME, Bijanki VN, Duan S, et al. Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660). J Bone Miner Res. 2017;32(4):757–69. DOI:10.1002/jbmr.3034
27. Rolvien T, Kornak U, Schinke T, Amling M, Oheim R. A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee. Osteoporos Int. 2018 Aug 27 DOI:10.1007/s00198-018-4667-6
28. Sheth J, Bhavsar R, Gandhi A, Sheth F, Pancholi D. A case of Raine syndrome presenting with facial dysmorphy and review of literature. BMC Med Genet. 2018 May 11;19(1):76. DOI:10.1186/s12881-018-0593-x
29. al-Mane K, al-Dayel F, McDonald P. Intracranial calcification in Raine syndrome: radiological pathological correlation. Pediatr Radiol. 1998 Nov;28(11):820–3. DOI:10.1007/s002470050473
30. Rickert CH, Rieder H, Rehder H, Hülskamp G, Hörnig-Franz I, Louwen F, et al. Neuropathology of Raine syndrome. Acta Neuropathol. 2002 Mar;103(3):281–7. DOI:10.1007/s00401-001-0469-5
31. Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, et al. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. J Bone Miner Res. 2013 Jun;28(6):1378–85. DOI:10.1002/jbmr.1850
32. Nieminen P, Lukinmaa P-L, Alapulli H, Methuen M, Suojärvi T, Kivirikko S, et al. DLX3 homeodomain mutations cause tricho-dento-osseous syndrome with novel phenotypes. Cells Tissues Organs (Print). 2011;194(1):49–59. DOI:10.1159/000322561
33. Jalili IK. Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Eye (Lond). 2010 Nov;24(11):1659–68. DOI:10.1038/eye.2010.103
34. Aswath N, Ramakrishnan SN, Teresa N, Ramanathan A. A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol. 2018 Jan;125(1):e8–11. DOI: 10.1016/j.oooo.2017.09.016
35. Simancas-Escorcia V, Berdal A, Díaz-Caballero A. Caracterización fenotípica del síndrome amelogénesis imperfecta–nefrocalcinosis: una revisión. Duazary: Revista Internacional de Ciencias de la Salud; Vol 16 Núm 1 (2019). DOI : 10.21676/2389783X.2531.
2. Le TT. Incentivizing Orphan Product Development: United States Food and Drug Administration Orphan Incentive Programs. Adv Exp Med Biol. 2017;1031:183–96. DOI: 10.1007/978-3-319-67144-4_10.
3. Pareja Arcila ML. Situación actual de las enfermedades huérfanas en Colombia 2017. CES Derecho. 2017;8(2):231–41. DOI: http://dx.doi.org/10.21615/cesder.8.2.2
4. Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development. Rare Diseases and Orphan Products: Accelerating Research and Development. Field MJ, Boat TF, editors. Washington (DC): National Academies Press (US); 2010. (The National Academies Collection: Reports funded by National Institutes of Health).
5. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nature Reviews Genetics. 2013 Oct;14(10):681–91. DOI: 10.1038/nrg3555.
6. Kan AE, Kozlowski K. New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). Am J Med Genet. 1992 Jul 15;43(5):860–4. DOI:10.1002/ajmg.1320430522
7. Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, et al. FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. BMC Genomics. 2005 Jan 27;6:11. DOI:10.1186/1471-2164-6-11
8. Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet. 2009 Mar;75(3):271–6. DOI:10.1111/j.1399-0004.2008.01118.x
9. Acevedo AC, Poulter JA, Alves PG, de Lima CL, Castro LC, Yamaguti PM, et al. Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. BMC Med Genet. 2015 Feb 21;16:8. DOI:10.1186/s12881-015-0154-5
10. Fradin M, Stoetzel C, Muller J, Koob M, Christmann D, Debry C, et al. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Clin Genet. 2011 Aug;80(2):177–83. DOI: 10.1111/j.1399-0004.2010.01516.x
11. Tagliabracci VS, Engel JL, Wen J, Wiley SE, Worby CA, Kinch LN, et al. Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. Science. 2012 Jun 1;336(6085):1150–3. DOI:10.1126/science.1217817
12. Tagliabracci VS, Wiley SE, Guo X, Kinch LN, Durrant E, Wen J, et al. A Single Kinase Generates the Majority of the Secreted Phosphoproteome. Cell. 2015 Jun 18;161(7):1619–32. DOI:10.1016/j.cell.2015.05.028
13. Hutton B, Catalá-López F, Moher D. La extensión de la declaración PRISMA para revisiones sistemáticas que incorporan metaanálisis en red: PRISMA-NMA. Med Clin (Barc). 2016 Sep 16;147(6):262–6. DOI: 10.1016/j.medcli.2016.02.025
14. Moher D, Liberati A, Tetzlaff J, Altman DG. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. BMJ. 2009 Jul 21;339:b2535. DOI: 10.1016/j.jcms.2010.11.001
15. Raine J, Winter RM, Davey A, Tucker SM. Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. Journal of Medical Genetics. 1989 Dec 1;26(12):786–8. DOI: 10.1016/j.jcms.2010.11.001
16. Kingston HM, Freeman JS, Hall CM. A new lethal sclerosing bone dysplasia. Skeletal Radiol. 1991;20(2):117–9. Doi:10.1007/bf00193823
17. Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, et al. Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Am J Med Genet A. 2007 Dec 15;143A(24):3280–5. DOI:10.1002/ajmg.a.32022
18. Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet. 2009 Mar;75(3):271–6. DOI:10.1111/j.1399-0004.2008.01118.x
19. Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, et al. Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development. The American Journal of Human Genetics. 2007 Nov 1;81(5):906–12. DOI:10.1086/522240
20. Acevedo AC, Poulter JA, Alves PG, de Lima CL, Castro LC, Yamaguti PM, et al. Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. BMC Med Genet. 2015 Feb 21;16:8. DOI:10.1186/s12881-015-0154-5
21. Elalaoui SC, Al-Sheqaih N, Ratbi I, Urquhart JE, O’Sullivan J, Bhaskar S, et al. Non lethal Raine syndrome and differential diagnosis. Eur J Med Genet. 2016 Nov;59(11):577–83. DOI:10.1016/j.ejmg.2016.09.018
22. Tamai K, Tada K, Takeuchi A, Nakamura M, Marunaka H, Washio Y, et al. Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome. Am J Med Genet A. 2018;176(3):682–6. DOI:10.1002/ajmg.a.38598
23. Kochar GS, Choudhary A, Gadodia A, Gupta N, Simpson MA, Crosby AH, et al. Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent. Clin Dysmorphol. 2010 Jul;19(3):153–6. DOI:10.1097/MCD.0b013e32833a22c5
24. Ababneh FK, AlSwaid A, Youssef T, Al Azzawi M, Crosby A, AlBalwi MA. Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. Am J Med Genet A. 2013 Dec;161A(12):3155–60. DOI:10.1002/ajmg.a.36160
25. Kinoshita Y, Hori M, Taguchi M, Fukumoto S. Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia. Bone. 2014 Oct;67:145–51. DOI:10.1016/j.bone.2014.07.009
26. Whyte MP, McAlister WH, Fallon MD, Pierpont ME, Bijanki VN, Duan S, et al. Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660). J Bone Miner Res. 2017;32(4):757–69. DOI:10.1002/jbmr.3034
27. Rolvien T, Kornak U, Schinke T, Amling M, Oheim R. A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee. Osteoporos Int. 2018 Aug 27 DOI:10.1007/s00198-018-4667-6
28. Sheth J, Bhavsar R, Gandhi A, Sheth F, Pancholi D. A case of Raine syndrome presenting with facial dysmorphy and review of literature. BMC Med Genet. 2018 May 11;19(1):76. DOI:10.1186/s12881-018-0593-x
29. al-Mane K, al-Dayel F, McDonald P. Intracranial calcification in Raine syndrome: radiological pathological correlation. Pediatr Radiol. 1998 Nov;28(11):820–3. DOI:10.1007/s002470050473
30. Rickert CH, Rieder H, Rehder H, Hülskamp G, Hörnig-Franz I, Louwen F, et al. Neuropathology of Raine syndrome. Acta Neuropathol. 2002 Mar;103(3):281–7. DOI:10.1007/s00401-001-0469-5
31. Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, et al. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. J Bone Miner Res. 2013 Jun;28(6):1378–85. DOI:10.1002/jbmr.1850
32. Nieminen P, Lukinmaa P-L, Alapulli H, Methuen M, Suojärvi T, Kivirikko S, et al. DLX3 homeodomain mutations cause tricho-dento-osseous syndrome with novel phenotypes. Cells Tissues Organs (Print). 2011;194(1):49–59. DOI:10.1159/000322561
33. Jalili IK. Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Eye (Lond). 2010 Nov;24(11):1659–68. DOI:10.1038/eye.2010.103
34. Aswath N, Ramakrishnan SN, Teresa N, Ramanathan A. A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol. 2018 Jan;125(1):e8–11. DOI: 10.1016/j.oooo.2017.09.016
35. Simancas-Escorcia V, Berdal A, Díaz-Caballero A. Caracterización fenotípica del síndrome amelogénesis imperfecta–nefrocalcinosis: una revisión. Duazary: Revista Internacional de Ciencias de la Salud; Vol 16 Núm 1 (2019). DOI : 10.21676/2389783X.2531.