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.
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Authors | Clinton Carroll, Akosua Badu-Nkansah, Tracy Hunley, Alireza Baradaran-Heravi, David Cortez, Haydar Frangoul |
Journal | Pediatric blood & cancer
(Pediatr Blood Cancer)
Vol. 60
Issue 9
Pg. E88-90
(Sep 2013)
ISSN: 1545-5017 [Electronic] United States |
PMID | 23630135
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2013 Wiley Periodicals, Inc. |
Chemical References |
- SMARCAL1 protein, human
- DNA Helicases
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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)
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