Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.

doi:10.3390/ijms23168952

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Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.

International journal of molecular sciences - 11 Aug 2022

Santoro Claudia, Mirone Giuseppe, Zanobio Mariateresa, Ranucci Giusy, D'Amico Alessandra, Cicala Domenico, Iascone Maria, Bernardo Pia, Piccolo Vincenzo, Ronchi Andrea, Limongelli Giuseppe, Carotenuto Marco, Nigro Vincenzo, Cinalli Giuseppe, Piluso Giulio

Abstract excerpt

Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy in some cases occurring in children. Incidence is higher in East Asia, where the heterozygous p.Arg4810Lys variant in RNF213 (Mysterin) represents the major susceptibility factor. Rare variants in RNF213 have also been found in European MMA patients with incomplete penetrance and are today a recognized susceptibility factor for other cardiovascular...

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PMID: 36012218
DOI: 10.3390/ijms23168952
PMCID: PMC9408709

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