Schimke immunoosseous dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child. Issue 9 (29th April 2013)

• Record Type: Journal Article
• Authors: Carroll, Clinton; Badu‐Nkansah, Akosua; Hunley, Tracy; Baradaran‐Heravi, Alireza; Cortez, David; Frangoul, Haydar
• Is Part Of: Pediatric blood & cancer. Volume 60:Issue 9(2013:Sep.)
• Page Start: E88
• Page End: E90
• Publication Date: 2013-04-29
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.24542
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="pbc24542-sec-0001" sec-type="section"> <p>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 <italic>SMARCAL1</italic> (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 <italic>SMARCAL1</italic> who developed undifferentiated carcinoma of the sinus. Pediatr Blood Cancer 2013;60:E88–E90. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>