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.
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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.
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