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

Connections (3)

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