Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome.
Aymé-Gripp syndrome
congenital cataract
hearing loss
pericardial effusion
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
02 2022
02 2022
Historique:
revised:
27
09
2021
received:
24
06
2021
accepted:
30
09
2021
pubmed:
14
10
2021
medline:
8
4
2022
entrez:
13
10
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34643041
doi: 10.1002/ajmg.a.62540
doi:
Substances chimiques
Cytokines
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
624-627Informations de copyright
© 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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