Division of Pediatric Hematology/Oncology, Monroe Carell Jr. Children's Hospital, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-6310, USA.
Pediatr Blood Cancer. 2013 Sep;60(9):E88-90. doi: 10.1002/pbc.24542. Epub 2013 Apr 29.
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.
希姆克免疫骨发育不良（SIOD）是一种罕见的常染色体隐性遗传疾病，以脊椎骨骺发育不良、肾衰竭和 T 细胞免疫缺陷为特征。SIOD 与多种恶性肿瘤有关，包括非霍奇金淋巴瘤和骨肉瘤。约一半的 SIOD 患者存在 SMARCAL1（SWI/SNF 相关基质相关肌动蛋白依赖性染色质调节剂亚家族 A 样 1）的双等位基因突变。该基因编码一种退火解旋酶和复制应激反应蛋白，定位于损伤停滞的 DNA 复制叉。我们报告了一例 SIOD 患儿，其 SMARCAL1 中存在 S859P 错义突变，该患儿发生了未分化鼻窦癌。
