A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.
Am J Med Genet A
; 185(7): 2168-2174, 2021 07.
Article
em En
| MEDLINE
| ID: mdl-33960657
Ring-finger protein 213 (RNF213) encodes a protein of unknown function believed to play a role in cellular metabolism and angiogenesis. Gene variants are associated with susceptibility to moyamoya disease. Here, we describe two children with moyamoya disease who also demonstrated kidney disease, elevated aminotransferases, and recurrent skin lesions found by exome sequencing to have de novo missense variants in RNF213. These cases highlight the ability of RNF213 to cause Mendelian moyamoya disease in addition to acting as a genetic susceptibility locus. The cases also suggest a new, multi-organ RNF213-spectrum disease characterized by liver, skin, and kidney pathology in addition to severe moyamoya disease caused by heterozygous, de novo C-terminal RNF213 missense variants.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Dermatopatias
/
Adenosina Trifosfatases
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Ubiquitina-Proteína Ligases
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Nefropatias
/
Doença de Moyamoya
Tipo de estudo:
Risk_factors_studies
Limite:
Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article