A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

Strong Alanna; OGrady Gina; Shih Evelyn; Bishop Jonathan R.; Loomes Kathleen; Diamond Tamir; Hartung Erum A.; Wong William; Cuddapah Sanmati; Cahill Anne Marie; Hou Cuiping; Slater Diana; Vaccaro Courtney; Watson Deborah; Li Dong; Hakonarson Hakon

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A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

机译：一种新的Moyamoya病，肾发育不全性，氨基转移酶升高和与RNF213相关的脱诺变种相关的皮肤病综合征

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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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《American journal of medical genetics, Part A》 |2021年第7期|共7页
作者
Strong Alanna; OGrady Gina; Shih Evelyn; Bishop Jonathan R.; Loomes Kathleen; Diamond Tamir; Hartung Erum A.; Wong William; Cuddapah Sanmati; Cahill Anne Marie; Hou Cuiping; Slater Diana; Vaccaro Courtney; Watson Deborah; Li Dong; Hakonarson Hakon;
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作者单位

Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;

Auckland Dist Hlth Board Starship Childrens Hlth Pediat Neuroserv Auckland New Zealand;

Childrens Hosp Philadelphia Dept Pediat Div Neurol Philadelphia PA 19104 USA;

Auckland Dist Hlth Board Starship Child Hlth Dept Pediat Gastroenterol Auckland New Zealand;

Childrens Hosp Philadelphia Div Gastroenterol Hepatol &

Nutr Philadelphia PA 19104 USA;

Childrens Hosp Philadelphia Div Gastroenterol Hepatol &

Nutr Philadelphia PA 19104 USA;

Childrens Hosp Philadelphia Dept Pediat Div Nephrol Philadelphia PA 19104 USA;

Auckland Dist Hlth Board Starship Child Hlth Dept Pediat Nephrol Auckland New Zealand;

Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;

Childrens Hosp Philadelphia Dept Radiol Div Intervent Radiol Philadelphia PA 19104 USA;

Childrens Hosp Philadelphia Ctr Appl Genom Philadelphia PA 19104 USA;

Childrens Hosp Philadelphia Ctr Appl Genom Philadelphia PA 19104 USA;

Childrens Hosp Philadelphia Ctr Appl Genom Philadelphia PA 19104 USA;

Childrens Hosp Philadelphia Ctr Appl Genom Philadelphia PA 19104 USA;

Childrens Hosp Philadelphia Ctr Appl Genom Philadelphia PA 19104 USA;

Childrens Hosp Philadelphia Div Human Genet Philadelphia PA 19104 USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
elevated aminotransferases; erythema multiforme; kidney dysplasia; moyamoya disease; RNF213;

机译：升高的氨基转移酶;红斑多形状;肾功能不良;Moyamoya病;RNF213;

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3. A Novel De novo GATA?binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome [J] . Xue‑Ying Chu, Yue‑Peng Li, Min Nie, 中华医学杂志（英文版） . 2017,第011期
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机译：从头发生RNF213变异的婴儿的烟雾病的非典型表现
5. De Novo Development of Moyamoya Disease in an Adult Female with a Genetic Variant of the RNF-213 Gene: Case Report [J] . Tashiro Ryosuke, Fujimura Miki, Niizuma Kuniyasu, Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association . 2017,第1期

机译：De Novo开发Moyamoya疾病在成年女性中，RNF-213基因的遗传变异：案例报告
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10. A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213 [O] . Alanna Strong, Gina OGrady, Evelyn Shih, 2021

机译：一种新的Moyamoya疾病综合征，肾发育不良，氨基转移酶升高以及与RNF213中的德诺伊族变异相关的皮肤病
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A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

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