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

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

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.

Original languageEnglish
Article number27
JournalHuman Genome Variation
Volume8
Issue number1
DOIs
Publication statusPublished - 2021 Dec
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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