目的 探讨BRAF基因变异类型及其临床特征。方法 回顾性分析8例存在BRAF基因变异患儿的临床资料及基因变异类型。结果 8例患儿中4例源于生殖细胞变异，另4例源于体细胞变异。源于生殖细胞变异的4例患儿均表现为心-面-皮肤（CFC）综合征临床特征，属于极其罕见的疾病，均具有特殊面容、发育迟滞、皮肤毛发异常表现，部分患儿还存在癫痫、心脏畸形等表现，均属于BRAF基因的新发变异，但变异位点不同。源于体细胞变异的4例患儿中，2例表现为朗格罕斯细胞组织细胞增生症（LCH），另2例表现为中枢神经系统恶性肿瘤。结论 BRAF基因变异在生殖细胞时，可出现严重的发育障碍，表现为心-面-皮肤综合征的临床特征;变异在体细胞时，可出现肿瘤、LCH等。

Objective To investigate the variants and clinical characteristics of BRAF gene. Methods The clinical data and types of gene variation in 8 cases of children with BRAF gene variation were retrospectively analyzed. Results Eight children had BRAF gene variations, four of which were derived from germ cells and the other four from somatic cells. The 4 patients with BRAF gene variations from germ cells all showed clinical features of cardio-facio-cutaneous (CFC) syndrome, which is an extremely rare disease. They all have special facial features, developmental retardation, skin and hair abnormalities, and some children also have epilepsy, heart malformation and other manifestations. They were all new variations in the BRAF gene, but the variation sites were different. Of the 4 children whose BRAF gene variations originated from somatic cells, 2 presented with Langerhans cell histiocytosis (LCH), and the other 2 presented with central nervous system malignant tumors. Conclusions When BRAF gene variation occurs in germ cells, children can develop severe developmental disorders that can present as clinical features of CFC syndrome. When BRAF gene variation occurs in somatic cells, it can cause tumors and LCH, etc.