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Diferencias clínicas en gemelos monocigóticos con síndrome de Rett: informe de caso y revisión sistemática

Silvia Boeri^1,2, Maria Piai³, Silvia Russo⁴

¹Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. silviaboeri@gaslini.org.

Orphanet journal of rare diseases

|September 2, 2025

Resumen

Los casos de síndrome de Rett (RTT) en gemelos idénticos muestran una gravedad variable a pesar de la misma mutación del gen MECP2. Las diferencias fenotípicas no se explican por los patrones de inactivación del cromosoma X, lo que sugiere que otros factores genéticos están en juego.

Área de la Ciencia:

La genética
La neurociencia
Biología del desarrollo

Sus antecedentes:

El síndrome de Rett (RTT) es un trastorno grave del desarrollo neurológico causado principalmente por mutaciones en el gen MECP2.
Los gemelos monocigóticos (MZ) con RTT presentan casos raros pero informativos para el estudio de las influencias genéticas en el fenotipo.
Los estudios anteriores a menudo se centraron en similitudes o diferencias fenotípicas sin un análisis genético profundo.

Conclusiones:

La variabilidad fenotípica en gemelos MZ con RTT no se explica adecuadamente por los patrones de inactivación del cromosoma X.
Se requieren más investigaciones genéticas para comprender la base de la discordancia fenotípica en RTT.
Los modelos celulares derivados de gemelos pueden ofrecer información sobre las correlaciones genotipo-fenotipo.

Palabras clave:

La epilepsia El MECP2 Los gemelos monocigóticos Síndrome de Rett La inactivación del cromosoma X

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