Abstract：
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.
摘要：
自2009年首次报告以来，全外显子组测序已成为人类遗传学中最有效和高效的研究工具。MIRAGE综合征是通过全外显子组测序在病因不明的肾上腺功能不全患儿中发现的一种新的单基因疾病。并且由SAMD9中的从头杂合变体引起。MIRAGE综合征最初被发现是一种影响多个系统的全身性疾病，包括造血,免疫，内分泌，和胃肠道系统，但后来的研究表明，骨髓增生异常综合征患者的一部分是唯一的表现。此外,SAMD9L的致病变异，据报道，SAMD9的旁系基因会导致造血系统和中枢神经系统的遗传性疾病，称为共济失调-全血细胞减少综合征。本文回顾了MIRAGE综合征从发现到SAMD9/SAMD9L综合征提出的历史，并讨论了未来研究的方向。
