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

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

doi:10.1038/s41439-020-0091-5

Shinsuke Onuma, Yuri Etani + Show 9 more

Open Access

https://doi.org/10.1038/s41439-020-0091-5

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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).

Highlights

MIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy
MIRAGE syndrome is caused by a gain-of-function variant in the SAMD9 gene on the long arm of chromosome 7 (7q21.2), encoding sterile alpha motif domain-containing protein 9, which functions in endosome fusion and regulates cell growth in in vitro models[1,2]
We report a patient with MIRAGE syndrome who possesses a de novo novel missense variant in the SAMD9 gene

Summary

Introduction

MIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. 1234567890():,; 1234567890():,; 1234567890():,; 1234567890():,; MIRAGE syndrome (OMIM #617053) is a recently discovered disorder with multifaceted clinical features, including myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy[1]. We present a case of MIRAGE syndrome with a novel de novo missense variant [NM_017654.4:c.4435 G > T, p.(Ala1479Ser)] in the SAMD9 gene.

Results

Conclusion