MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene,Human Genome Variation

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MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
Human Genome Variation ( IF 1.0 ) Pub Date : 2020-03-05 , DOI: 10.1038/s41439-020-0091-5
Shinsuke Onuma ₁ , Tamaki Wada ₁ , Ryosuke Araki ₂ , Kazuko Wada ₂ , Kanako Tanase-Nakao ₃ , Satoshi Narumi ₃ , Miho Fukui ₁ , Yasuko Shoji ₁ , Yuri Etani ₁ , Shinobu Ida ₁ , Masanobu Kawai _{1,

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Affiliation

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 SAMD9 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 SAMD9 gene (c.4435 G > T; p.Ala1479Ser).

中文翻译：

由 SAMD9 基因中的新型错义变异 (p.Ala1479Ser) 引起的 MIRAGE 综合征

MIRAGE 综合征是最近发现的一种疾病，其特征为骨髓增生异常、感染、生长受限、肾上腺发育不全、生殖器表型和肠病。它是由SAMD9基因中的功能获得性变异引起的，但有关基因型与表型相关性的知识有限。我们在此报道了一名患有 MIRAGE 综合征的日本患者，其SAMD9基因（c.4435 G > T；p.Ala1479Ser）携带新型杂合错义变异。

更新日期：2020-04-24

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