SAMD9基因变异致MIRAGE综合征1例并文献复习

MIRAGE syndrome caused by SAMD9 gene variation in a Chinese child and literature review

回顾性分析2020年6月在深圳市儿童医院呼吸科住院的1例诊断为MIRAGE综合征患儿的临床资料。患儿,男,11个月,因"间断发热1.5个月,血氧下降0.5 d"就诊。利用二代测序技术进行全外显子检测,结果显示SAMD9基因(NM_017654)杂合变异,变异位点为c.2471G>A,为错义突变,该变异为自发变异。文献复习发现患儿(47例)均为早产儿,且父母非近亲结婚,出生后全面发育迟缓,部分伴骨髓增生异常、反复感染、肾上腺功能不全、生殖器表型和肠病。SAMD9基因c.1376G>A和c.2471G>A变异位点为热点变异。对早产且出生后全面发育落后的患儿需警惕MIRAGE综合征的可能。

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.