Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2

Autor: Irene Valenzuela, Elena Guillén Benítez, Angel Sanchez‐Montanez, Javier Limeres, Fermina López‐Grondona, Ivon Cuscó, Eduardo F. Tizzano
Rok vydání: 2021
Předmět:
Zdroj: American Journal of Medical Genetics Part A. 188:991-995
ISSN: 1552-4833
1552-4825
DOI: 10.1002/ajmg.a.62596
Popis: The PACS2 gene encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation that has been shown to be highly expressed during human prenatal brain development. Pathogenic variants in PACS2 have been recently shown to be implicated in a phenotype with global developmental delay/intellectual disability, seizures, autistic traits, facial dysmorphic features, and cerebellar dysgenesis. Here, we report a 25-year-old male with intellectual disability, epileptic encephalopathy, cerebellar dysgenesis, facial dysmorphism, and a previously reported pathogenic variant in PACS2. To our knowledge, this is the oldest patient reported who, in addition to the known phenotype described in PACS2 patients, presented with a vein of Galen malformation and dilated cardiomyopathy as previously unreported findings.
Databáze: OpenAIRE
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