David Cortez
Faculty Member
Last active: 2/4/2016

Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.

Carroll C, Badu-Nkansah A, Hunley T, Baradaran-Heravi A, Cortez D, Frangoul H
Pediatr Blood Cancer. 2013 60 (9): E88-90

PMID: 23630135 · PMCID: PMC3713188 · DOI:10.1002/pbc.24542

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.

Copyright © 2013 Wiley Periodicals, Inc.

MeSH Terms (13)

Amino Acid Substitution Arteriosclerosis Carcinoma Child, Preschool DNA Helicases Humans Immunologic Deficiency Syndromes Male Mutation, Missense Nephrotic Syndrome Nose Neoplasms Osteochondrodysplasias Pulmonary Embolism

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