Department of Neonatology, Kepler University Hospital, Linz, Austria.
Department of Medical Genetics, Kepler University Hospital, Linz, Austria.
Pediatr Blood Cancer. 2019 Apr;66(4):e27589. doi: 10.1002/pbc.27589. Epub 2018 Dec 19.
MIRAGE syndrome caused by mutations in SAMD9 is associated with potential loss of chromosome 7 (-7/7q-) and an increased risk to develop myelodysplastic syndrome (MDS). We report a case of MIRAGE syndrome, caused by a novel SAMD9 mutation p.Leu641Pro, leading to characteristic clinical features as well as to the coexistence of cells with monosomy 7 (20%) and with uniparental disomy of long arm of chromosome 7 (UPD7q). In contrast to previously reported MIRAGE patients with -7/7q- developing MDS, our patient achieved complete cytogenetic remission of monosomy 7. As UPD7q remained unchanged, it seems to be a protective factor against MDS.
MIRAGE 综合征由 SAMD9 基因突变引起，与潜在的 7 号染色体缺失（-7/7q-）和发展为骨髓增生异常综合征（MDS）的风险增加有关。我们报告了一例由新型 SAMD9 突变 p.Leu641Pro 引起的 MIRAGE 综合征，导致了特征性的临床特征，以及存在单体 7 号染色体（20%）和 7 号染色体长臂单亲二体性（UPD7q）的细胞共存。与之前报道的 -7/7q- 发生 MDS 的 MIRAGE 患者不同，我们的患者实现了单体 7 号染色体完全细胞遗传学缓解。由于 UPD7q 保持不变，它似乎是 MDS 的保护因素。
