The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms

Yuki Kawashima-Sonoyama; Keisuke Okuno; Tomotsune Dohmoto; Kanako Tanase-Nakao; Satoshi Narumi; Noriyuki Namba

doi:10.1038/s41439-021-00158-6

The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms

Hum Genome Var. 2021 Jul 12;8(1):27. doi: 10.1038/s41439-021-00158-6.

Authors

Yuki Kawashima-Sonoyama^{1

2}, Keisuke Okuno³, Tomotsune Dohmoto⁴, Kanako Tanase-Nakao⁵, Satoshi Narumi⁵, Noriyuki Namba³

Affiliations

¹ Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago, Japan. yuki.kawashima@med.shimane-u.ac.jp.
² Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Japan. yuki.kawashima@med.shimane-u.ac.jp.
³ Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago, Japan.
⁴ Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.
⁵ Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

Abstract

We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially considered to have familial dysautonomia (FD)-like disease due to increased levels of catecholamine metabolites. Functional analyses of F437S-SAMD9 were performed, showing characteristics of disease-causing variants. This new SAMD9 variant (p.F437S) also causes MIRAGE syndrome.

Abstract

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