John Libbey Eurotext

First reported case of an inherited PACS2 pathogenic variant with variable expression Volume 24, numéro 3, June 2022

Illustrations

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Auteurs
Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, United Hospitals of Ancona, Ancona, Italy
* Correspondence: Carla Marini

Neonatal epilepsy, cerebellar dysgenesis and facial dysmorphisms may be associated with de novo PACS2 missense pathogenic variants (EIEE 66) (OMIM #618067). Here, we report a toddler boy with neonatal-onset seizures, developmental delay with hypotonia, facial dysmorphisms and prominence of the cisterna magna, mild inferior vermian and cerebellar hypoplasia. A nextgeneration epilepsy gene panel revealed a known pathogenic PACS2 missense variant, p.Glu209Lys, that was inherited from his mildly affected mother. We describe the first PACS2 pathogenic variant to be inherited, expanding the clinical spectrum, associated with a mild phenotype in the mother and a more severe phenotype in her son, in keeping with previously reported descriptions.