Department of Rheumatology and Immunology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Sci China Life Sci. 2017 Jul;60(7):758-762. doi: 10.1007/s11427-017-9090-6. Epub 2017 Jun 16.
The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed. We identified 10 missense mutations, out of which five were new: R334L, E383D, R471C, C495R and D512F. The rest of them, R334W, R334Q, G481D, M513T and R587C, have been reported previously. Among all the mutations, R334W, R334Q and C495R had the highest frequency. Blau syndrome was found at early age after birth. It began with lepidic rash and symmetric polyarthritis and was phenotypically characterized by typical rash, arthritis, iridocyclitis and arteritis. Cardiac involvement was also found in Blau syndrome. In addition to nerve deafness, renal involvement, osteochondroma and central nervous system involvement were also found in our patients. Therefore, Chinese children with Blau syndrome have unique gene mutations and complicated clinical phenotypes. Pathologic examination and CARD15 mutation testing should be considered for diagnosis as early as possible for suspected patients.
分析了 CARD15 基因突变与中国 Blau 综合征患者的临床特征。我们鉴定出 10 种错义突变，其中 5 种是新的：R334L、E383D、R471C、C495R 和 D512F。其余的 R334W、R334Q、G481D、M513T 和 R587C 之前已有报道。在所有突变中，R334W、R334Q 和 C495R 的频率最高。Blau 综合征在出生后早期发病。它始于鳞屑样皮疹和对称性多关节炎，表型特征为典型皮疹、关节炎、虹膜睫状体炎和动脉炎。Blau 综合征也有心脏受累。除了神经性耳聋，我们的患者还发现了肾脏受累、骨软骨瘤和中枢神经系统受累。因此，中国的 Blau 综合征患儿具有独特的基因突变和复杂的临床表型。对于疑似患者，应尽早考虑进行病理检查和 CARD15 基因突变检测以明确诊断。
