Variabilidade genética e papel dos fenótipos oculares no Síndrome de Stickler
DOI:
https://doi.org/10.18270/rsb.v11i1.3641Palavras-chave:
Síndrome de Stickler, fenótipo vítreo, COL2A1, COL11A1, COL9A1, COL9A2, Oftalmoartropatia.Resumo
Introdução: O Síndrome de Stickler (SS) é uma anomalia do tecido conjuntivo caracterizada por alterações oculares, orofaciais, auditivas e esqueléticas. Embora existam quatro tipos de SS, a maioria das formas clínicas apresentam alterações oculares como alta miopia, degeneração vítreorretiniana, catarata e descolamento de retina, sendo a causa mais comum deste último na infância.
Objetivo: Ampliar os conhecimentos sobre os genes envolvidos na SS e a expressão clínica de la, profundando no papel dos fenótipos oculares.
Metodologia: Neste trabalho realizamos uma revisão do estado atual do SS consultando bibliografia de alto impacto e publicação recente. As buscas foram feitas no PubMed, Hinari, SCIELO, Medline e páginas dedicadas a esses tópicos como OMIM, OPHRANET, GeneMap, Genetest, Proteins, Gene, entre outros. Foram usados descritores de pesquisa como “Stickler Syndrome”, “Stickler Syndrome gene”, “ocular signs and Stickler Syndrome” e “Stickler Syndrome review”.
Resultados: Foram encontrados diversos artigos sobre SS, dos quais foram citados 32, dos quais 25 são de 2016 até o momento, relatando 4 genes principais: COL2A1, COL11A1, O COL9A1, COL9A2. COL2A1 e COL11A1 são responsáveis por 95% dos pacientes com SS. As doenças oculares são comuns na maioria dos tipos.
Conclusões: O diagnóstico do SS basase em critérios clínico-radiológicos além disso a confirmação molecular é decisiva, a avaliação do vítreo pode ser um guia útil para uma análise genética eficiente.
Downloads
Referências
Stickler GB, Belau PG, Farrell FJ Jones JD, Pugh DG, Steinberg AG, Ward LE. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc. 1965; 40:433–55.
Zhou L, Xiao X, Li S, Jia X, Wang P, Sun W, Zhang F, Li J, Li T, Zhang Q. Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome? Mol Vis. 2018; 24:560-73.
Wang X, Jia X, Xiao X, Li S, Li J, Li Y, Wei Y, Liang X, Guo X. Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. Mol Vis. 2016; 22: 697-704.
Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH. Mutation spectrum of Stickler Syndrome Type I and genotype-phenotype analysis in East Asian population: a systematic review. BMC Med Genet. 2020;21(1):27.
DOI: 10.1186/s12881-020-0963-z
On Line Mendelian Inheritance in Man. OMIM [database on the internet] * Entry - 108300 - Stickler Syndrome, Type I; STL1. Baltimore US: Johns Hopkins University; June 4th 1986. [Updated Feb 13th 2013 – Consulted Oct 20th 2020]. Available in: https://omim.org/entry/108300#title
Huang L, Chen C, Wang Z, Sun L, Li S, Zhang T, Luo X, Ding X. Mutation spectrum and de novo mutation analysis in Stickler Syndrome patients with high myopia or retinal detachment. Genes (Basel). 2020;11(8):882. DOI: 10.3390/genes11080882
Ryan SJ, Schachat AP, Wilkinson CP, Hinton DR, Sadda SR, Wiedemann P. Retina 3-Volume Set. 5th Edition. Philadelphia-US: Saunders Elsevier; 2012.
Juvier-Riesgo T, Santiesteban-Freixas R, Bory-Vargas N. Enfermedades del vítreo. En Santiesteban-Freixas R. Oftalmologia Pediatrica. 2ª ed. Cuba: Editorial Ciencias Médicas; 2018. p 320-5.
Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye (Lond). 2011; 25(11):1389-400.
DOI: 10.1038/eye.2011.201
On Line Mendelian Inheritance in Man. OMIM [database on the internet] * Entry - 120140 - Collagen,
Type II, Alpha – 1; COL2A1. Baltimore US: Johns Hopkins University; June 4th 1986. [Updated Jan 3th 2018 – Consulted Oct 20th 2020]. Available in: https://www.omim.org/entry/120140
Kondo H, Matsushita I, Nagata T, Hayashi T, Kakinoki M, Uchio E, Kondo M, Ohji M, Kusaka S. Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome. Hum Genome Var. 2016; 3:16018.
DOI: 10.1038/hgv.2016.18
On Line Mendelian Inheritance in Man. OMIM [database on the internet] * Entry - 609508 - Stickler Syndrome, Type I, Nonsyndromic Ocular. Baltimore US: Johns Hopkins University; August 29th 2005. [Updated April 8th 2013 –Consulted Oct 20th 2020]. Available in: https://omim.org/entry/609508
On Line Mendelian Inheritance in Man. OMIM [database on the internet] * Entry - 143200 - Wagner Vitreoretinophaty; WGVRP. Baltimore US: Johns Hopkins University; June 4th 1986. [Updated April 8th 2013 – Consulted Oct 20th 2020]. Available in: https://www.omim.org/entry/143200
Juvier-Riesgo T. Distrofias de retina en edad pediátrica. En Santiesteban-Freixas R. Oftalmologia Pediatrica. 2ª ed. Cuba: Editorial Ciencias Médicas; 2018. P 349-66.
On Line Mendelian Inheritance in Man. OMIM [database on the internet] * Entry - 604841 - Stickler Syndrome, Type II; STL2. Baltimore US: Johns Hopkins University; April 16th 2000. [Updated April 10th 2007 – Consulted Oct 20th 2020]. Available in: https://www.omim.org/entry/604841
On Line Mendelian Inheritance in Man. OMIM [database on the internet] * Entry - 120280 - Collagen, Type XI, Alpha-1; COL11A1. Baltimore US: Johns Hopkins University; September 29th 1987. [Updated May 24th 2020 – Consulted Oct 20th 2020]. Available in: https://www.omim.org/entry/120280
Kohmoto T, Tsuji A, Morita K, Naruto T, Masuda K, Kashimada K, Enomoto K, Morio T, Harada H, Imoto I. A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. Hum Genome Var. 2016; 3:16003.
DOI: 10.1038/hgv.2016.3
Vogiatzi MG, Li D, Tian L, Garifallou JP, Kim CE, Hakonarson H, Levine MA. A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures. Osteoporos Int. 2018; 29(1):247-51.
DOI: 10.1007/s00198-017-4229-3
Huang X, Lin Y, Chen C, Zhu Y, Gao H, Li T, Liu B, Lyu C, Huang Y, Wu Q, Li H, Jin C, Liang X, Lu L. Targeted nextgeneration sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment. Int J Mol Med. 2018; 42(4):1819-26. DOI: 10.3892/ijmm.2018.3752
Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H. A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. J Med Case Rep. 2017; 11(1):237.
DOI: 10.1186/s13256-017-1396-y
On Line Mendelian Inheritance in Man. OMIM [database on the internet] * Entry - 614134 - Stickler Syndrome, Type IV; STL4. Baltimore US: Johns Hopkins University; August 4th 2011. [Updated Dec 5th 2014 – Consulted Oct 20th 2020]. Available in: https://omim.org/entry/614134
On Line Mendelian Inheritance in Man. OMIM [database on the internet] * Entry - 120210 - Collagen, Type IX, Alpha-1; COL9A1. Baltimore US: Johns Hopkins University; June 4th 1986. [Updated Dec 5th 2014 – Consulted Oct 20th 2020]. Available in: https://omim.org/entry/120210
Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet. 2006; 79(3):449-57. DOI: 10.1086/506478
Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. Invest. Ophthal. Vis. Sci. 2011; 52(7):4774-9. DOI: 10.1167/iovs.10-7128
On Line Mendelian Inheritance in Man. OMIM [database on the internet] * Entry - 614284 - Stickler Syndrome, Type V; STL5. Baltimore US: Johns Hopkins University; Oct 7th 2011. [Consulted Oct 20th 2020]. Available in:
https://www.omim.org/entry/614284
On Line Mendelian Inheritance in Man. OMIM [database on the internet] * Entry - 120260 - Collagen, Type IX, Alpha-2; COL9A2. Baltimore US: Johns Hopkins University; June 26th 1987. [Updated July 23th 2017 – Consulted Oct 20th 2020]. Available in: https://omim.org/entry/120260
Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L. A loss of function mutation in the COL9A2 gene cause autosomal recessive Stickler syndrome. Am. J. Med. Genet. 2011; 155A (7): 1668-72.
DOI: 10.1002/ajmg.a.34071
On Line Mendelian Inheritance in Man. OMIM [database on the internet] * Entry - 607163 – Lysyl Oxidase-Like 3; LOXL3. Baltimore US: Johns Hopkins University; August 23th 2002. [Updated Feb 24th 2016 – Consulted Oct 20th 2020]. Available in: https://omim.org/entry/607163
Laurentino TS, Soares RDS, Marie SKN, Oba-Shinjo SM. LOXL3 function beyond amino oxidase and role in pathologies, including cancer. Int J Mol Sci. 2019; 20(14):3587. https://doi:10.3390/ijms20143587
Chan TK, Alkaabi MK, ElBarky AM, El-Hattab AW. LOXL3 novel mutation causing a rare form of
autosomal recessive Stickler syndrome. Clin Genet. 2019; 95(2):325-8. https://doi:10.1111/cge.13465.
Khan MFJ, Little J, Mossey PA, Steegers-Theunissen RPM, Bonsi M, Bassi Andreasi R, Rubini M. Association between a common missense variant in LOXL3 gene and the risk of non-syndromic cleft palate. Congenit Anom (Kyoto). 2018; 58(4):136-40. DOI: 10.1111/cga.12288
Stickler G, Hughes W y Houchin P. Clinical features of hereditary progressive arthro-ophtalmopathy (Stickler syndrome): A survey. Genet Med. 2001; 3(3):192-6. https://doi.org/10.1097/00125817-200105000-00008
Downloads
Publicado
Como Citar
Edição
Seção
Licença
Copyright (c) 2021 Universidad El Bosque
Este trabalho está licenciado sob uma licença Creative Commons Attribution-NonCommercial 4.0 International License.
El (Los) autor(es) certifican que es(son) el (los) autor(es) originario(s) del trabajo que se esta presentando para posible publicación en la Revista Salud Bosque de la Facultad Escuela Colombiana de Medicina de la Universidad El Bosque, puesto que sus contenidos son producto de su directa contribución intelectual.
Todos los datos y las referencias a materiales ya publicados deben estar debidamente identificados con su respectivo crédito e incluidos en las notas bibliográficas y en las citas que se destacan como tal y, en los casos que así lo requieran, deben contar con las debidas autorizaciones de quienes poseen los derechos patrimoniales.
El (Los) autor(es) declara(n) que todos los materiales que se presentan están totalmente libres de derecho de autor y, por lo tanto, se hace(n) responsable(s) de cualquier litigio o reclamación relacionada con derechos de propiedad intelectual, exonerando de responsabilidad a la Universidad El Bosque
