Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation

Bernhard Csillag; Denisa Ilencikova; Manfred Meissl; Gerald Webersinke; Franco Laccone; Satoshi Narumi; Oskar Haas; Hans Christoph Duba

doi:10.1002/pbc.27589

Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation

Bernhard Csillag, Denisa Ilencikova, Manfred Meissl, Gerald Webersinke, Franco Laccone, Satoshi Narumi, Oskar Haas, Hans Christoph Duba

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Article number	e27589
Journal	Pediatric Blood and Cancer
Volume	66
Issue number	4
DOIs	https://doi.org/10.1002/pbc.27589
Publication status	Published - 2019 Apr
Externally published	Yes

Keywords

MIRAGE syndrome
monosomy 7
myelodysplastic syndrome
SAMD9 mutation in mosaic form
UPD7q

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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10.1002/pbc.27589

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title = "Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation",

abstract = "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.",

keywords = "MIRAGE syndrome, monosomy 7, myelodysplastic syndrome, SAMD9 mutation in mosaic form, UPD7q",

author = "Bernhard Csillag and Denisa Ilencikova and Manfred Meissl and Gerald Webersinke and Franco Laccone and Satoshi Narumi and Oskar Haas and Duba, {Hans Christoph}",

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journal = "Medical and Pediatric Oncology",

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AU - Csillag, Bernhard

AU - Ilencikova, Denisa

AU - Meissl, Manfred

AU - Webersinke, Gerald

AU - Laccone, Franco

AU - Narumi, Satoshi

AU - Haas, Oskar

AU - Duba, Hans Christoph

PY - 2019/4

Y1 - 2019/4

N2 - 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.

AB - 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.

KW - MIRAGE syndrome

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KW - myelodysplastic syndrome

KW - SAMD9 mutation in mosaic form

KW - UPD7q

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Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation

Abstract

Keywords

ASJC Scopus subject areas

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