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Gene mutations and clinical phenotypes in Chinese children with Blau syndrome.

Science China. Life sciences - 1 Jul 2017

Li Caifeng, Zhang Junmei, Li Shipeng, Han Tongxin, Kuang Weiying, Zhou Yifang, Deng Jianghong, Tan Xiaohua

Abstract excerpt

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...

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PMID: 28639104
DOI: 10.1007/s11427-017-9090-6

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