Advance in research on MIRAGE syndrome.
10.3760/cma.j.cn511374-20251022-00621
- Author:
Zhiqiang QIN
1
,
2
;
Xiaomin ZHANG
Author Information
1. Department of Children's Rehabilitation, The Affiliated Hospital of Jining Medical University, Jining, Shandong 272029, China. xxxz58961@
2. com.
- Publication Type:English Abstract
- MeSH:
Humans;
Mutation;
Fetal Growth Retardation/therapy*;
Myelodysplastic Syndromes/therapy*;
Intracellular Signaling Peptides and Proteins/genetics*
- From:
Chinese Journal of Medical Genetics
2025;42(12):1513-1517
- CountryChina
- Language:Chinese
-
Abstract:
MIRAGE syndrome is a rare autosomal dominant disorder caused by gain-of-function mutations of the SAMD9 gene. Its typical clinical manifestations include myelodysplasia, intrauterine growth restriction, adrenal hypoplasia, genital abnormalities, and enteropathy. The gain-of-function toxicity of the SAMD9 gene and subsequent somatic revertant mutations have been identified as the core molecular mechanisms underlying the multi-system phenotypes and clonal hematopoietic evolution in this disease. The specific genotypic background and tissue-specific distribution of somatic revertant mutations collectively constitute the genetic basis for its significant clinical heterogeneity. In recent years, important breakthroughs have been made in research on the pathogenesis, phenotypic expansion, molecular diagnosis, and targeted therapy of the MIRAGE syndrome. This article has systematically reviewed the latest progress made in the research on the etiology, clinical manifestations, diagnosis, and treatment of this disease.
