Discovery of MIRAGE syndrome

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4 Citations (Scopus)


Since the first report in 2009, whole exome sequencing has become the most effective and efficient research tool in human genetics. MIRAGE syndrome is a novel single-gene disorder discovered through whole-exome sequencing for pediatric patients with adrenal insufficiency of unknown etiology, and is caused by de novo heterozygous variants in SAMD9. MIRAGE syndrome was initially discovered as a systemic disease affecting multiple systems, including hematopoietic, immune, endocrine, and gastrointestinal systems but later studies revealed a subset of patients with myelodysplastic syndrome as the sole manifestation. In addition, pathogenic variants in SAMD9L, a paralog gene of SAMD9, were reported to cause an inherited disorder of the hematopoietic system and central nervous system, called ataxia-pancytopenia syndrome. This article reviews the history of MIRAGE syndrome from its discovery to the proposal of SAMD9/SAMD9L syndromes, and discusses directions for future research.

Original languageEnglish
Article numbere15283
JournalPediatrics International
Issue number1
Publication statusPublished - 2022 Jan 1
Externally publishedYes


  • MIRAGE syndrome
  • SAMD9
  • SAMD9L
  • monosomy 7
  • myelodysplastic syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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