Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome
König AL, Sabir H, Strizek B, Gembruch U, Herberg U, Bertrand M, Grasshoff U, Wiegand G, Wiechers C, Bernis E, Reutter HM, Müller A (2021)
Publication Type: Journal article
Publication year: 2021
Journal
DOI: 10.1002/ajmg.a.62540
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.
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Germany (DE)How to cite
APA:
König, A.L., Sabir, H., Strizek, B., Gembruch, U., Herberg, U., Bertrand, M.,... Müller, A. (2021). Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.62540
MLA:
König, Anna Lina, et al. "Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome." American Journal of Medical Genetics Part A (2021).
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