HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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

Abstract
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.
AuthorsClinton Carroll, Akosua Badu-Nkansah, Tracy Hunley, Alireza Baradaran-Heravi, David Cortez, Haydar Frangoul
JournalPediatric blood & cancer (Pediatr Blood Cancer) Vol. 60 Issue 9 Pg. E88-90 (Sep 2013) ISSN: 1545-5017 [Electronic] United States
PMID23630135 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2013 Wiley Periodicals, Inc.
Chemical References
  • SMARCAL1 protein, human
  • DNA Helicases
Topics
  • Amino Acid Substitution
  • Arteriosclerosis (complications, genetics)
  • Carcinoma (genetics)
  • Child, Preschool
  • DNA Helicases (genetics)
  • Humans
  • Immunologic Deficiency Syndromes (complications, genetics)
  • Male
  • Mutation, Missense
  • Nephrotic Syndrome (complications, genetics)
  • Nose Neoplasms (genetics)
  • Osteochondrodysplasias (complications, genetics)
  • Primary Immunodeficiency Diseases
  • Pulmonary Embolism (complications, genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: