Schimke immunoosseous dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child

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.