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Gene mutations and clinical phenotypes in Chinese children with Blau syndrome

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收录情况： ◇ SCIE ◇ CSCD-C

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机构： [1]Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Rheumatol & Immunol, Beijing 100045, Peoples R China

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关键词： Blau syndrome genetic mutation clinical phenotype

摘要：

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.

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中科院(CAS)分区：

出版当年[2016]版：

大类 | 4 区生物

小类 | 3 区生物学

最新[2023]版：

大类 | 2 区生物学

小类 | 2 区生物学

JCR分区：

出版当年[2015]版：

Q2 BIOLOGY

最新[2023]版：

Q1 BIOLOGY

影响因子： 8 最新[2023版] 7.3 最新五年平均 2.297 出版当年[2015版] 1.772 出版当年五年平均 1.688 出版前一年[2014版] 2.781 出版后一年[2016版]

第一作者：

第一作者机构： [1]Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Rheumatol & Immunol, Beijing 100045, Peoples R China

通讯作者：

通讯机构： [1]Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Rheumatol & Immunol, Beijing 100045, Peoples R China

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