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

被引：9

作者：

Onuma, Shinsuke ^{[1
]}

Wada, Tamaki ^{[1
]}

Araki, Ryosuke ^{[2
]}

Wada, Kazuko ^{[2
]}

Tanase-Nakao, Kanako ^{[3
]}

Narumi, Satoshi ^{[3
]}

Fukui, Miho ^{[1
]}

Shoji, Yasuko ^{[1
]}

Etani, Yuri ^{[1
]}

Ida, Shinobu ^{[1
]}

Kawai, Masanobu ^{[1
,4
]}

机构：

[1] Osaka Womens & Childrens Hosp, Dept Gastroenterol Nutr & Endocrinol, Osaka, Japan

[2] Osaka Womens & Childrens Hosp, Dept Neonatol, Osaka, Japan

[3] Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

[4] Osaka Womens & Childrens Hosp, Res Inst, Dept Bone & Mineral Res, Osaka, Japan

来源：

HUMAN GENOME VARIATION | 2020年 / 7卷 / 01期

基金：

日本学术振兴会;

关键词：

BONE-MARROW FAILURE; MUTATIONS; CHARTS;

D O I：

10.1038/s41439-020-0091-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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).

引用

页数：4

共 19 条

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