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报道一个Waardenburg I型综合征(waardenburg syndrome, WS)家系的新型PAX3突变。通过全基因组测序的方法检测家系各成员的基因突变，结合遗传谱系分析研究其遗传特点。该WS I型家系共有3代11位成员，结合临床诊断标准，先证者及其母亲确诊为WS I，结合基因组测序结果，两位患者以及先证者的外祖母存在PAX3基因c.358G>T突变，该突变为PAX3基因的新型突变，预测其可导致120Glu无义突变为终止子，从而致病。该WS I家系存在一新型的PAX3突变，有一定的遗传指导意义。
A novel PAX3 mutation was reported in a Waardenburg syndrome (WS) pedigree. Genome sequencing was used to detect the gene mutations in each member of the pedigree. Genetic characteristics were analyzed with genetic lineage analysis. The WS I family has a total of 11 generations of 3 generations. Combined with clinical diagnostic criteria, probands and their mothers were diagnosed as WSI. Based on the genome sequencing results, PAX3 gene c.358G> T was present in both patients and proband’s grandmothers Mutations, which are new mutations in the PAX3 gene, are predicted to result in a 120Glu nonsense mutation into a terminator leading to disease. There is a new type of PAX3 mutation in this WS I family, which has some genetic guiding significance.