ISSN 1673-3770 CN 37-1437/R
山东大学耳鼻喉眼学报 ›› 2017, Vol. 31 ›› Issue (6): 39-41.doi: 10.6040/j.issn.1673-3770.0.2017.443
徐新博,马小洁,闫涛,含笑,张寒冰
XU Xinbo, MA Xiaojie, YAN Tao, HAN Xiao, ZHANG Hanbing
摘要： 目的 报道一个Waardenburg I型综合征(waardenburg syndrome, WS)家系的新型PAX3突变。 方法 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。 结果 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。 结论 该WS I家系存在一新型的PAX3突变,有一定的遗传指导意义。
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