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Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation
Author(s) -
Csillag Bernhard,
Ilencikova Denisa,
Meissl Manfred,
Webersinke Gerald,
Laccone Franco,
Narumi Satoshi,
Haas Oskar,
Duba HansChristoph
Publication year - 2019
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27589
Subject(s) - medicine , chromosome 7 (human) , monosomy , mutation , uniparental disomy , genetics , chromosome , pediatrics , karyotype , biology , gene
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.