RESUMO
The clinical data of a case diagnosed with MIRAGE syndrome in the Respiratory Department of Shenzhen Children′s Hospital in June 2020 were analyzed retrospectively.The 11-month-old boy was admitted to the hospital because of " intermittent fever for 1.5 months and blood oxygen decline for half a day" . Whole exome detection was carried out by using second-generation sequencing technology.The results showed spontaneous, heterozygous, missense variation in SAMD9 gene (NM_017654) and the mutation site was c. 2471G>A.Review of the literature found that all of the children (47 cases) were born prematurely and their parents were not intermarriage.Besides, they had overall growth retardation, and some suffered from myelodysplasia, recurrent infection, adrenal insufficiency, genital phenotypes and enteropathy.Among SAMD9 gene variation, mutations c. 1376G>A and c. 2471G>A are most frequent.Attention should be paid to the MIRAGE syndrome in children with premature birth and full development lag after birth.