Síndrome X frágil y otras patologías asociadas al gen FMR1

Resumen

El 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.

Biografía del autor/a

Juan Carlos Castillo Juárez, Universidad San Carlos de Guatemala, Ciudad de Guatemala, Guatemala.

Médico interno de pregrado. Facultad de Ciencias Médicas de la Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala.
Correo electrónico: jccj98@outlook.com ORCID: http://orcid.org/0000-0002-7107-1370

Marco José Zapparoli de León, Universidad San Carlos de Guatemala, Ciudad de Guatemala, Guatemala

Médico interno de pregrado. Facultad de Ciencias Médicas de la Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala.
Correo electrónico: mzapparolidl@gmail.com ORCID: http://orcid.org/0000-0003-1628-1532

Diego José Sánchez Díaz, Universidad San Carlos de Guatemala, Ciudad de Guatemala, Guatemala

Médico interno de pregrado. Facultad de Ciencias Médicas de la Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala.
Correo electrónico: 3002712040101@medicina.usac.edu.gt ORCID: http://orcid.org/0000-0001-9766-2382

Christian Gabriel Blanco Alvarado, Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala

Médico interno de pregrado. Facultad de Ciencias Médicas de la Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala.
Correo electrónico: c.gabriel.blanco@gmail.com orcid: http://orcid.org/0000-0002-8144-9197

Daniel Andrés Sierra García, Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala

Médico interno de pregrado. Facultad de Ciencias Médicas de la Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala.
Correo electrónico: dannysierra97@gmail.com ORCID: https://orcid.org/0000-0001-8303-8212

Gabriel Silva Arévalo , Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala

Genetista egresado de Baylor University; pediatra y médico general, Facultad de Ciencias Médicas de la Universidad de San Carlos de Guatemala, Ciudad de Guatemala. Correo electrónico: gasadoctor@yahoo.com

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Biografía del autor/a

Juan Carlos Castillo Juárez, Universidad San Carlos de Guatemala, Ciudad de Guatemala, Guatemala.

Médico interno de pregrado. Facultad de Ciencias Médicas de la Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala.
Correo electrónico: jccj98@outlook.com ORCID: http://orcid.org/0000-0002-7107-1370

Marco José Zapparoli de León, Universidad San Carlos de Guatemala, Ciudad de Guatemala, Guatemala

Médico interno de pregrado. Facultad de Ciencias Médicas de la Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala.
Correo electrónico: mzapparolidl@gmail.com ORCID: http://orcid.org/0000-0003-1628-1532

Diego José Sánchez Díaz, Universidad San Carlos de Guatemala, Ciudad de Guatemala, Guatemala

Médico interno de pregrado. Facultad de Ciencias Médicas de la Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala.
Correo electrónico: 3002712040101@medicina.usac.edu.gt ORCID: http://orcid.org/0000-0001-9766-2382

Christian Gabriel Blanco Alvarado, Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala

Médico interno de pregrado. Facultad de Ciencias Médicas de la Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala.
Correo electrónico: c.gabriel.blanco@gmail.com orcid: http://orcid.org/0000-0002-8144-9197

Daniel Andrés Sierra García, Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala

Médico interno de pregrado. Facultad de Ciencias Médicas de la Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala.
Correo electrónico: dannysierra97@gmail.com ORCID: https://orcid.org/0000-0001-8303-8212

Gabriel Silva Arévalo , Universidad de San Carlos de Guatemala, Ciudad de Guatemala, Guatemala

Genetista egresado de Baylor University; pediatra y médico general, Facultad de Ciencias Médicas de la Universidad de San Carlos de Guatemala, Ciudad de Guatemala. Correo electrónico: gasadoctor@yahoo.com

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Cómo citar
Castillo Juárez, J. C., Zapparoli de León, M. J., Sánchez Díaz, D. J., Blanco Alvarado, C. G., Sierra García, D. A., & Silva Arévalo , G. (2021). Síndrome X frágil y otras patologías asociadas al gen FMR1. Revista Med, 29(1), 37-55. https://doi.org/10.18359/rmed.5262
Publicado
2021-12-31
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Artículos
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