Okamoto Nobuhiko, Ehara Eiji, Tsurusaki Yoshinori, Miyake Noriko, Matsumoto Naomichi
Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Department of Pediatric Cardiology, Osaka City General Hospital, Osaka, Japan.
Congenit Anom (Kyoto). 2018 May;58(3):105-107. doi: 10.1111/cga.12242. Epub 2017 Oct 6.
Coffin-Siris syndrome (CSS) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes. Variants in the genes encoding subunits of the BAF complex as well as in SOX11 encoding the transcriptional factor under the control of BAF complex are associated with CSS. We report a new patient with a novel SOX11 mutation. He showed the CSS phenotype and coarctation of the aorta. Sox11 is known to be associated with cardiac outflow development in mouse studies. Therefore, cardiac anomalies might be an important complication in patients with SOX11 mutations.
科芬-西里斯综合征（CSS）的特征为生长发育迟缓、智力障碍、小头畸形、畸形特征以及第五指和/或趾甲发育不全。编码BAF复合物亚基的基因以及在BAF复合物控制下编码转录因子的SOX11基因中的变异与CSS相关。我们报告了一名患有新型SOX11突变的新患者。他表现出CSS表型和主动脉缩窄。在小鼠研究中已知Sox11与心脏流出道发育有关。因此，心脏异常可能是SOX11突变患者的重要并发症。
