期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 185, 期 7, 页码 2168-2174出版社
WILEY
DOI: 10.1002/ajmg.a.62215
关键词
elevated aminotransferases; erythema multiforme; kidney dysplasia; moyamoya disease; RNF213
资金
- Institutional Development Fund
- T32 Gastroenterology, Hepatology and Nutrition Training Grant [5T32DK101371-07]
- T32 Medical Genetics Training Grant [5T32GM008638-22]
RNF213 protein may cause Mendelian moyamoya disease and act as a genetic susceptibility locus, leading to a new multi-organ spectrum disease.
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.
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