Human Genome Variation (Jul 2021)

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
https://doi.org/10.1038/s41439-021-00158-6
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 3

Abstract

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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.