Fragile X Syndrome and Other Pathologies Associated with the FMR1 Gene

Síndrome X frágil y otras patologías asociadas al gen FMR1;
Síndrome do X frágil e outras patologias associadas ao gene FMR1

dc.creatorCastillo Juárez, Juan Carlos
dc.creatorZapparoli de León, Marco José
dc.creatorSánchez Díaz, Diego José
dc.creatorBlanco Alvarado, Christian Gabriel
dc.creatorSierra García, Daniel Andrés
dc.creatorSilva Arévalo , Gabriel
dc.date2021-12-31
dc.date.accessioned2022-12-15T18:29:15Z
dc.date.available2022-12-15T18:29:15Z
dc.identifierhttps://revistas.unimilitar.edu.co/index.php/rmed/article/view/5262
dc.identifier10.18359/rmed.5262
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/5357509
dc.descriptionFragile X syndrome is the most common cause of X-linked psychomotor retardation in children, with a prevalence of 1 : 5.000 in males and 1 : 4.000 - 8.000 in females. It is also the hereditary cause most associated with autism spectrum syndrome. The etiological basis of this pathology is the expansion of the cgg triplet at the distal end of the fmr1 gene, which causes its silencing. Patients affected with this syndrome usually suffer from behavioral, neurological, cardiac and orthopedic problems. This syndrome is also related to Fragile X-associated primary ovarian insufficiency, and Fragile X-associated tremor and ataxia syndrome affecting the mother and maternal grandfather, which, because of their recent description, may be unknown to health care providers, delaying their diagnosis and treatment. The objective of this article is to analyze these diseases, in order to describe the current knowledge about their etiology, clinical manifestations, diagnosis and treatment. This was done by collecting articles in Pubmed, with some contributions from Scielo, Redalyc, Europe PMC, Science Direct, Google Scholar and Genetics Home Reference databases. Among the main conclusions, it is highlighted that the phenotypes associated with FMR1 gene premutation involve different pathophysiological mechanisms to Fragile X syndrome, despite being closely related.en-US
dc.descriptionEl síndrome X frágil es la causa más frecuente de retraso psicomotor vinculado a cromosoma X en niños, con una prevalencia de 1 : 5.000 en hombres y 1 : 4.000 - 8.000 en mujeres. Además, es la causa hereditaria más asociada al síndrome del espectro autista. Esta patología posee como base etiológica la expansión del triplete CGG en el extremo distal del gen FMR1, lo que causa el silenciamiento del mismo. Los pacientes afectados con este síndrome suelen padecer de problemas conductuales, neurológicos, cardíacos y ortopédicos. Este también se relaciona con la Insuficiencia Ovárica Primaria asociada al X frágil, y el Síndrome de Temblor y Ataxia asociado al X frágil, que afectan a la madre y al abuelo materno, respectivamente. El objetivo de este artículo es aportar al conocimiento sobre estas enfermedades, permitiendo una mejor comprensión de su etiología, diagnóstico y tratamiento. Esto se hizo mediante la recopilación de artículos en Pubmed, con algunas contribuciones de las bases de datos Scielo, Redalyc, Europe PMC, Science Direct, Google Académico y Genetics Home Reference. Entre las conclusiones principales se encuentra que a pesar de estar relacionados, los fenotipos asociados a aumento del triplete CGG del gen FMR1 contemplan mecanismos etiológicos distintos.es-ES
dc.descriptionA síndrome do X frágil é a causa mais comum de retardo psicomotor ligado ao cromossomo X em crianças, com prevalência de 1 : 5.000 em homens e 1 : 4.000 a 8.000 em mulheres. Além disso, é a causa mais hereditária associada à síndrome do espectro do autismo. Essa patologia tem como base etiológica a expansão do trigêmeo cgg na extremidade distal do gene fmr1, o que causa seu silenciamento. Pacientes com essa síndrome geralmente sofrem de problemas comportamentais, neurológicos, cardíacos e ortopédicos. Essa síndrome também está relacionada à insuficiência ovariana primária associada ao X frágil, à síndrome do tremor e à ataxia associada ao X frágil, que acometem a mãe e o avô materno, e que, devido à sua descrição recente, poderiam ser desconhecidas pelos profissionais de saúde, o que atrasa seu diagnóstico e tratamento. O objetivo deste artigo é analisar essas doenças, a fim de descrever o conhecimento atual sobre sua etiologia, manifestações clínicas, diagnóstico e tratamento. Isso foi feito através da recopilação de artigos no Pubmed, com algumas contribuições das bases de dados Scielo, Redalyc, Europe pmc, Science Direct, Google Academic e Genetics Home Reference. Dentre as principais conclusões, destaca-se que os fenótipos associados à premutação do gene fmr1 incluem outros mecanismos fisiopatológicos além da síndrome do X frágil, apesar de eles estarem intimamente relacionados.pt-BR
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dc.languagespa
dc.publisherUniversidad Militar Nueva Granadaes-ES
dc.relationhttps://revistas.unimilitar.edu.co/index.php/rmed/article/view/5262/5017
dc.relationhttps://revistas.unimilitar.edu.co/index.php/rmed/article/view/5262/5067
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dc.rightsDerechos de autor 2021 Revista Medes-ES
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/4.0es-ES
dc.sourceRevista Med; Vol. 29 No. 1 (2021): january - june; 37-55en-US
dc.sourceRevista Med; Vol. 29 Núm. 1 (2021): enero - junio; 37-55es-ES
dc.source1909-7700
dc.source0121-5256
dc.titleFragile X Syndrome and Other Pathologies Associated with the FMR1 Geneen-US
dc.titleSíndrome X frágil y otras patologías asociadas al gen FMR1es-ES
dc.titleSíndrome do X frágil e outras patologias associadas ao gene FMR1pt-BR
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion


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