摘要配对同源异型盒蛋白2B( PHOX2B)是自主神经系统神经谱系分化的关键基因， PHOX2B基因突变介导调节自主呼吸和化学敏感性的脑干核功能失常，进而导致对缺氧和高碳酸血症的反应缺陷。另一方面， PHOX2B基因突变通过通过颅骨、下颌骨改变、Ⅲ类牙齿咬合不正及舌下核发育不全在阻塞性睡眠呼吸暂停低通气综合征中也发挥作用。因此， PHOX2B有望为低通气疾病诊治提供新的思路。

abstractsPaired-like homeobox 2B ( PHOX2B) is a key gene for the differentiation of the neural lineage of the autonomic nervous system, and mutations of PHOX2B gene mediate the dysfunction of brainstem nucleus which regulates autonomous respiration and chemosensitivity, leading to a defective response to hypoxia and hypercapnia.On the other hand, the PHOX2B gene mutations also play a role in obstructive sleep apnea hypopnea syndrome through changes in the skull and mandible, Class Ⅲ malocclusion, and sublingual nucleus hypoplasia.Therefore, PHOX2B is expected to provide new ideas for the diagnosis and treatment of hypoventilation diseases.