5q14.3 Microdeletion Syndrome With Simultaneous Involvement of MEF2C and RASA1 . Clinical Case and Review of the Literature
2024; Wiley; Linguagem: Inglês
10.1111/pde.15748
ISSN1525-1470
AutoresJ. González Rodríguez, Eduardo de‐la‐Rosa Fernández, Irene Loizate Sarrionandia, Elsa Benítez García, Maria Herrero Moyano, Héctor Juan Morales Moreno, José Suárez Hernández,
Tópico(s)Islanding Detection in Power Systems
ResumoABSTRACT 5q14.3 microdeletion syndrome is a rare condition involving multiple genes such as MEF2C and RASA1 and is potentially classified as a neurocutaneous syndrome. Deletion of the MEF2C gene accounts for the majority of clinical manifestations, including global developmental delay, intellectual disability, seizures, and behavioral disorders. RASA1 deletion is linked to capillary malformations with arteriovenous malformations (CM‐AVM). Until now, only 17 cases have been described with deletions of both genes. We present the first case described in Spain with the microdeletion in the 5q14.3 cytoband simultaneously affecting both MEF2C and RASA1 , exhibiting the typical manifestations of this entity, and review the published cases to date.
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