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

Shinsuke Onuma; Tamaki Wada; Ryosuke Araki; Kazuko Wada; Kanako Tanase-Nakao; Satoshi Narumi; Miho Fukui; Yasuko Shoji; Yuri Etani; Shinobu Ida; Masanobu Kawai

doi:10.1038/s41439-020-0091-5

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

Hum Genome Var. 2020 Mar 5:7:4. doi: 10.1038/s41439-020-0091-5. eCollection 2020.

Authors

Affiliations

¹ Department of Gastroenterology, Nutrition, and Endocrinology, Osaka Women's and Children's Hospital, Osaka, Japan.
² Department of Neonatology, Osaka Women's and Children's Hospital, Osaka, Japan.
³ 3Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
⁴ Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka, Japan.

Abstract

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).

Keywords: Adrenal gland diseases; Next-generation sequencing; Rare variants.