González Rodríguez José, de-la-Rosa Fernández Eduardo, Loizate Sarrionandia Irene, Benítez García Elsa, Herrero Moyano Maria, Morales Moreno Héctor Juan, Suárez Hernández José
Department of Dermatology, Hospital Universitario Nuestra Señora de la Candelaria, Santa Cruz de Tenerife, Spain.
Pediatr Dermatol. 2025 Jan-Feb;42(1):158-165. doi: 10.1111/pde.15748. Epub 2024 Sep 11.
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.
5q14.3微缺失综合征是一种罕见病症，涉及MEF2C和RASA1等多个基因，可能被归类为神经皮肤综合征。MEF2C基因的缺失是大多数临床表现的原因，包括全面发育迟缓、智力残疾、癫痫发作和行为障碍。RASA1基因缺失与伴有动静脉畸形的毛细血管畸形（CM-AVM）有关。到目前为止，仅有17例同时缺失这两个基因的病例被报道。我们报告了西班牙首例5q14.3细胞带微缺失同时影响MEF2C和RASA1的病例，该病例表现出该病症的典型症状，并对迄今为止已发表的病例进行了回顾。
