Gene mutations and clinical phenotypes in Chinese children with Blau syndrome

• Published in: Science China. Life sciences Vol. 60; no. 7; pp. 758 - 762
• Main Authors: Li, Caifeng, Zhang, Junmei, Li, Shipeng, Han, Tongxin, Kuang, Weiying, Zhou, Yifang, Deng, Jianghong, Tan, Xiaohua
• Format: Journal Article
• Language: English
• Published: Beijing Science China Press 01.07.2017; Springer Nature B.V
• Subjects: Age; Arteritis; Arthritis; Arthritis - complications; Arthritis - genetics; Biomedical and Life Sciences; Central nervous system; Children; Deafness; Exanthema; Heart diseases; Humans; Iridocyclitis; Kidneys; Life Sciences; Missense mutation; Mutation; Nod2 Signaling Adaptor Protein - genetics; Osteochondroma; Phenotype; Polyarthritis; Research Paper; Synovitis - complications; Synovitis - genetics; Uveitis - complications; Uveitis - genetics; 中国; 中枢神经系统; 临床特征; 出现频率; 基因突变; 突变检测; 综合征; 表型特征; genetic mutation; Blau syndrome; clinical phenotype
• ISSN: 1674-7305; 1869-1889
• DOI: 10.1007/s11427-017-9090-6

The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed. We identified10 missense mutations, out of which five were new： R334 L, E383 D, R471 C, C495 R and D512 F. The rest of them, R334 W,R334Q, G481 D, M513 T and R587 C, have been reported previously. Among all the mutations, R334 W, R334 Q and C495 R 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.