Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome.
Am J Med Genet A
; 188(2): 624-627, 2022 02.
Article
en En
| MEDLINE
| ID: mdl-34643041
ABSTRACT
Aymé-Gripp syndrome is a multisystemic disorder caused by a heterozygous variation in the MAF gene (OMIM*177075). Key features are congenital cataracts, sensorineural hearing loss, and a characteristic facial appearance. In a proportion of individuals, pericardial effusion or pericarditis has been reported as part of the phenotypic spectrum. In the present case, a large persistent cytokine-enriched pericardial effusion was the main pre- and postnatal symptom that led to the clinical and later molecular diagnosis of Aymé-Gripp syndrome. In the postnatal course, the typical Aymé-Gripp syndrome-associated features bilateral cataracts and hearing loss were diagnosed. We propose that activating dominant variants in the cytokine-modulating transcription factor c-MAF causes cytokine-enriched pericardial effusions possibly representing a key feature of Aymé-Gripp syndrome.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Derrame Pericárdico
/
Catarata
/
Pérdida Auditiva Sensorineural
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Alemania