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Schimke immunoosseous dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child
Author(s) -
Carroll Clinton,
BaduNkansah Akosua,
Hunley Tracy,
BaradaranHeravi Alireza,
Cortez David,
Frangoul Haydar
Publication year - 2013
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.24542
Subject(s) - medicine , cancer research , dysplasia , missense mutation , subfamily , mutation , gene , genetics , pathology , biology
Schimke Immunoosseous Dysplasia (SIOD) is a rare, autosomal recessive disorder of childhood with classical features of spondyloepiphyseal dysplasia, renal failure, and T cell immunodeficiency. SIOD has been associated with several malignancies, including non‐Hodgkin lymphoma and osteosarcoma. About half of SIOD patients have biallelic mutations in SMARCAL1 (SWI/SNF‐related matrix‐associated actin‐dependent regulator of chromatin, subfamily a‐like 1). This gene encodes an annealing helicase and replication stress response protein that localizes to damage‐stalled DNA replication forks. We report a child with SIOD and a novel S859P missense mutation in SMARCAL1 who developed undifferentiated carcinoma of the sinus. Pediatr Blood Cancer 2013;60:E88–E90. © 2013 Wiley Periodicals, Inc.