Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
Am J Med Genet A
; 188(3): 991-995, 2022 03.
Article
in En
| MEDLINE
| ID: mdl-34894068
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cardiomyopathy, Dilated
/
Cerebellar Diseases
/
Epilepsy, Generalized
/
Vein of Galen Malformations
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Aneurysm
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Intellectual Disability
Type of study:
Diagnostic_studies
Limits:
Humans
/
Male
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2022
Type:
Article
Affiliation country:
Spain