title: 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.
authors: Division of Pediatric Hematology/Oncology, Monroe Carell Jr. Children's Hospital, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-6310, USA. clinton.m.carroll@vanderbilt.edu
authors: Clinton
authors: C
authors: Carroll
authors: Akosua
authors: A
authors: Badu-Nkansah
authors: Tracy
authors: T
authors: Hunley
authors: Alireza
authors: A
authors: Baradaran-Heravi
authors: David
authors: D
authors: Cortez
authors: Haydar
authors: H
authors: Frangoul
mesh_terms: D019943:Amino Acid Substitution; D001161:Arteriosclerosis / Q000150:complications / Q000235:genetics*; D002277:Carcinoma / Q000235:genetics*; D002675:Child, Preschool; D004265:DNA Helicases / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000150:complications / Q000235:genetics*; D009669:Nose Neoplasms / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics*; D000081207:Primary Immunodeficiency Diseases; D011655:Pulmonary Embolism / Q000150:complications / Q000235:genetics*
chemical_list: C412482:SMARCAL1 protein, human; D004265:DNA Helicases
keywords: DNA damage response; SMARCAL1; Schimke immunoosseous dysplasia; cancer predisposition syndrome; replication stress response
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