由该基因中的一种新型错义变体（p.Ala1479Ser）引起的MIRAGE综合征。
MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the gene.
作者信息
Onuma Shinsuke, Wada Tamaki, Araki Ryosuke, Wada Kazuko, Tanase-Nakao Kanako, Narumi Satoshi, Fukui Miho, Shoji Yasuko, Etani Yuri, Ida Shinobu, Kawai Masanobu
机构信息
Department of Gastroenterology, Nutrition, and Endocrinology, Osaka Women's and Children's Hospital, Osaka, Japan.
Department of Neonatology, Osaka Women's and Children's Hospital, Osaka, Japan.
出版信息
Hum Genome Var. 2020 Mar 5;7:4. doi: 10.1038/s41439-020-0091-5. eCollection 2020.
MIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. It is caused by a gain-of-function variant in the gene, but there is limited knowledge regarding the genotype-phenotype correlation. We herein report a Japanese patient with MIRAGE syndrome carrying a novel de novo heterozygous missense variant in the gene (c.4435 G > T; p.Ala1479Ser).
MIRAGE综合征是一种最近发现的疾病，其特征为骨髓发育异常、感染、生长受限、肾上腺发育不全、生殖器表型和肠病。它由该基因的功能获得性变异引起，但关于基因型-表型相关性的了解有限。我们在此报告一名患有MIRAGE综合征的日本患者，其该基因存在一种新的从头杂合错义变异（c.4435 G > T；p.Ala1479Ser）。
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